Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28835592A>C | CA395408099 | ATXN2L | c.2729A>C (p.Gln910Pro) c.704A>C (p.Gln235Pro) n.3103A>C c.2747A>C (p.Gln916Pro) c.1793A>C (n.1793A>C) c.707A>C (p.Gln236Pro) c.249A>C c.2750A>C (p.Gln917Pro) c.2732A>C (p.Gln911Pro) c.2570A>C (p.Gln857Pro) c.2678A>C (p.Gln893Pro) c.2660A>C (p.Gln887Pro) c.2384A>C (p.Gln795Pro) n.2959A>C c.2552A>C (p.Gln851Pro) c.2366A>C (p.Gln789Pro) n.2962A>C c.2657A>C (p.Gln886Pro) c.2723A>C (p.Gln908Pro) c.2675A>C (p.Gln892Pro) c.2540A>C (p.Gln847Pro) | |
16 | g.28835592A>G | CA395408101 | ATXN2L | c.2729A>G (p.Gln910Arg) c.704A>G (p.Gln235Arg) n.3103A>G c.2747A>G (p.Gln916Arg) c.1793A>G (n.1793A>G) c.707A>G (p.Gln236Arg) c.249A>G c.2750A>G (p.Gln917Arg) c.2732A>G (p.Gln911Arg) c.2570A>G (p.Gln857Arg) c.2678A>G (p.Gln893Arg) c.2660A>G (p.Gln887Arg) c.2384A>G (p.Gln795Arg) n.2959A>G c.2552A>G (p.Gln851Arg) c.2366A>G (p.Gln789Arg) n.2962A>G c.2657A>G (p.Gln886Arg) c.2723A>G (p.Gln908Arg) c.2675A>G (p.Gln892Arg) c.2540A>G (p.Gln847Arg) | |
16 | g.28835592A>T | CA395408102 | ATXN2L | c.2729A>T (p.Gln910Leu) c.704A>T (p.Gln235Leu) n.3103A>T c.2747A>T (p.Gln916Leu) c.1793A>T (n.1793A>T) c.707A>T (p.Gln236Leu) c.249A>T c.2750A>T (p.Gln917Leu) c.2732A>T (p.Gln911Leu) c.2570A>T (p.Gln857Leu) c.2678A>T (p.Gln893Leu) c.2660A>T (p.Gln887Leu) c.2384A>T (p.Gln795Leu) n.2959A>T c.2552A>T (p.Gln851Leu) c.2366A>T (p.Gln789Leu) n.2962A>T c.2657A>T (p.Gln886Leu) c.2723A>T (p.Gln908Leu) c.2675A>T (p.Gln892Leu) c.2540A>T (p.Gln847Leu) | |
16 | g.28835593G>A | CA494868341 | ATXN2L | c.2730G>A (p.Gln910=) c.705G>A (p.Gln235=) n.3104G>A c.2748G>A (p.Gln916=) c.1794G>A (n.1794G>A) c.708G>A (p.Gln236=) c.250G>A c.2751G>A (p.Gln917=) c.2733G>A (p.Gln911=) c.2571G>A (p.Gln857=) c.2679G>A (p.Gln893=) c.2661G>A (p.Gln887=) c.2385G>A (p.Gln795=) n.2960G>A c.2553G>A (p.Gln851=) c.2367G>A (p.Gln789=) n.2963G>A c.2658G>A (p.Gln886=) c.2724G>A (p.Gln908=) c.2676G>A (p.Gln892=) c.2541G>A (p.Gln847=) | |
16 | g.28835593G>C | CA395408104 | ATXN2L | c.2730G>C (p.Gln910His) c.705G>C (p.Gln235His) n.3104G>C c.2748G>C (p.Gln916His) c.1794G>C (n.1794G>C) c.708G>C (p.Gln236His) c.250G>C c.2751G>C (p.Gln917His) c.2733G>C (p.Gln911His) c.2571G>C (p.Gln857His) c.2679G>C (p.Gln893His) c.2661G>C (p.Gln887His) c.2385G>C (p.Gln795His) n.2960G>C c.2553G>C (p.Gln851His) c.2367G>C (p.Gln789His) n.2963G>C c.2658G>C (p.Gln886His) c.2724G>C (p.Gln908His) c.2676G>C (p.Gln892His) c.2541G>C (p.Gln847His) | |
16 | g.28835593G>T | CA395408106 | ATXN2L | c.2730G>T (p.Gln910His) c.705G>T (p.Gln235His) n.3104G>T c.2748G>T (p.Gln916His) c.1794G>T (n.1794G>T) c.708G>T (p.Gln236His) c.250G>T c.2751G>T (p.Gln917His) c.2733G>T (p.Gln911His) c.2571G>T (p.Gln857His) c.2679G>T (p.Gln893His) c.2661G>T (p.Gln887His) c.2385G>T (p.Gln795His) n.2960G>T c.2553G>T (p.Gln851His) c.2367G>T (p.Gln789His) n.2963G>T c.2658G>T (p.Gln886His) c.2724G>T (p.Gln908His) c.2676G>T (p.Gln892His) c.2541G>T (p.Gln847His) | |
16 | g.28835594C>A | CA395408109 | ATXN2L | c.2731C>A (p.Gln911Lys) c.706C>A (p.Gln236Lys) n.3105C>A c.2749C>A (p.Gln917Lys) c.1795C>A (n.1795C>A) c.709C>A (p.Gln237Lys) c.251C>A c.2752C>A (p.Gln918Lys) c.2734C>A (p.Gln912Lys) c.2572C>A (p.Gln858Lys) c.2680C>A (p.Gln894Lys) c.2662C>A (p.Gln888Lys) c.2386C>A (p.Gln796Lys) n.2961C>A c.2554C>A (p.Gln852Lys) c.2368C>A (p.Gln790Lys) n.2964C>A c.2659C>A (p.Gln887Lys) c.2725C>A (p.Gln909Lys) c.2677C>A (p.Gln893Lys) c.2542C>A (p.Gln848Lys) | |
16 | g.28835594C>G | CA395408110 | ATXN2L | c.2731C>G (p.Gln911Glu) c.706C>G (p.Gln236Glu) n.3105C>G c.2749C>G (p.Gln917Glu) c.1795C>G (n.1795C>G) c.709C>G (p.Gln237Glu) c.251C>G c.2752C>G (p.Gln918Glu) c.2734C>G (p.Gln912Glu) c.2572C>G (p.Gln858Glu) c.2680C>G (p.Gln894Glu) c.2662C>G (p.Gln888Glu) c.2386C>G (p.Gln796Glu) n.2961C>G c.2554C>G (p.Gln852Glu) c.2368C>G (p.Gln790Glu) n.2964C>G c.2659C>G (p.Gln887Glu) c.2725C>G (p.Gln909Glu) c.2677C>G (p.Gln893Glu) c.2542C>G (p.Gln848Glu) | |
16 | g.28835594C>T | CA395408111 | ATXN2L | c.2731C>T (p.Gln911Ter) c.706C>T (p.Gln236Ter) n.3105C>T c.2749C>T (p.Gln917Ter) c.1795C>T (n.1795C>T) c.709C>T (p.Gln237Ter) c.251C>T c.2752C>T (p.Gln918Ter) c.2734C>T (p.Gln912Ter) c.2572C>T (p.Gln858Ter) c.2680C>T (p.Gln894Ter) c.2662C>T (p.Gln888Ter) c.2386C>T (p.Gln796Ter) n.2961C>T c.2554C>T (p.Gln852Ter) c.2368C>T (p.Gln790Ter) n.2964C>T c.2659C>T (p.Gln887Ter) c.2725C>T (p.Gln909Ter) c.2677C>T (p.Gln893Ter) c.2542C>T (p.Gln848Ter) | |
16 | g.28835595A>C | CA395408114 | ATXN2L | c.2732A>C (p.Gln911Pro) c.707A>C (p.Gln236Pro) n.3106A>C c.2750A>C (p.Gln917Pro) c.1796A>C (n.1796A>C) c.1A>C c.710A>C (p.Gln237Pro) c.252A>C c.2753A>C (p.Gln918Pro) c.2735A>C (p.Gln912Pro) c.2573A>C (p.Gln858Pro) c.2681A>C (p.Gln894Pro) c.2663A>C (p.Gln888Pro) c.2387A>C (p.Gln796Pro) n.2962A>C c.2555A>C (p.Gln852Pro) c.2369A>C (p.Gln790Pro) n.2965A>C c.2660A>C (p.Gln887Pro) c.2726A>C (p.Gln909Pro) c.2678A>C (p.Gln893Pro) c.2543A>C (p.Gln848Pro) | |
16 | g.28835595A>G | CA395408115 | ATXN2L | c.2732A>G (p.Gln911Arg) c.707A>G (p.Gln236Arg) n.3106A>G c.2750A>G (p.Gln917Arg) c.1796A>G (n.1796A>G) c.1A>G c.710A>G (p.Gln237Arg) c.252A>G c.2753A>G (p.Gln918Arg) c.2735A>G (p.Gln912Arg) c.2573A>G (p.Gln858Arg) c.2681A>G (p.Gln894Arg) c.2663A>G (p.Gln888Arg) c.2387A>G (p.Gln796Arg) n.2962A>G c.2555A>G (p.Gln852Arg) c.2369A>G (p.Gln790Arg) n.2965A>G c.2660A>G (p.Gln887Arg) c.2726A>G (p.Gln909Arg) c.2678A>G (p.Gln893Arg) c.2543A>G (p.Gln848Arg) | |
16 | g.28835595A>T | CA395408117 | ATXN2L | c.2732A>T (p.Gln911Leu) c.707A>T (p.Gln236Leu) n.3106A>T c.2750A>T (p.Gln917Leu) c.1796A>T (n.1796A>T) c.1A>T c.710A>T (p.Gln237Leu) c.252A>T c.2753A>T (p.Gln918Leu) c.2735A>T (p.Gln912Leu) c.2573A>T (p.Gln858Leu) c.2681A>T (p.Gln894Leu) c.2663A>T (p.Gln888Leu) c.2387A>T (p.Gln796Leu) n.2962A>T c.2555A>T (p.Gln852Leu) c.2369A>T (p.Gln790Leu) n.2965A>T c.2660A>T (p.Gln887Leu) c.2726A>T (p.Gln909Leu) c.2678A>T (p.Gln893Leu) c.2543A>T (p.Gln848Leu) | |
16 | g.28835596G>A | CA494868371 | ATXN2L | c.2733G>A (p.Gln911=) c.708G>A (p.Gln236=) n.3107G>A c.2751G>A (p.Gln917=) c.1797G>A (n.1797G>A) c.2G>A c.711G>A (p.Gln237=) c.253G>A c.2754G>A (p.Gln918=) c.2736G>A (p.Gln912=) c.2574G>A (p.Gln858=) c.2682G>A (p.Gln894=) c.2664G>A (p.Gln888=) c.2388G>A (p.Gln796=) n.2963G>A c.2556G>A (p.Gln852=) c.2370G>A (p.Gln790=) n.2966G>A c.2661G>A (p.Gln887=) c.2727G>A (p.Gln909=) c.2679G>A (p.Gln893=) c.2544G>A (p.Gln848=) | |
16 | g.28835596G>C | CA395408119 | ATXN2L | c.2733G>C (p.Gln911His) c.708G>C (p.Gln236His) n.3107G>C c.2751G>C (p.Gln917His) c.1797G>C (n.1797G>C) c.2G>C c.711G>C (p.Gln237His) c.253G>C c.2754G>C (p.Gln918His) c.2736G>C (p.Gln912His) c.2574G>C (p.Gln858His) c.2682G>C (p.Gln894His) c.2664G>C (p.Gln888His) c.2388G>C (p.Gln796His) n.2963G>C c.2556G>C (p.Gln852His) c.2370G>C (p.Gln790His) n.2966G>C c.2661G>C (p.Gln887His) c.2727G>C (p.Gln909His) c.2679G>C (p.Gln893His) c.2544G>C (p.Gln848His) | |
16 | g.28835596G>T | CA395408120 | ATXN2L | c.2733G>T (p.Gln911His) c.708G>T (p.Gln236His) n.3107G>T c.2751G>T (p.Gln917His) c.1797G>T (n.1797G>T) c.2G>T c.711G>T (p.Gln237His) c.253G>T c.2754G>T (p.Gln918His) c.2736G>T (p.Gln912His) c.2574G>T (p.Gln858His) c.2682G>T (p.Gln894His) c.2664G>T (p.Gln888His) c.2388G>T (p.Gln796His) n.2963G>T c.2556G>T (p.Gln852His) c.2370G>T (p.Gln790His) n.2966G>T c.2661G>T (p.Gln887His) c.2727G>T (p.Gln909His) c.2679G>T (p.Gln893His) c.2544G>T (p.Gln848His) | |
16 | g.28835597A= | CA2215806302 | ATXN2L | c.2734A= (p.Asn912=) c.709A= (p.Asn237=) n.3108A= c.2752A= (p.Asn918=) c.1798A= (n.1798A=) c.3A= c.712A= (p.Asn238=) c.254A= c.2755A= (p.Asn919=) c.2737A= (p.Asn913=) c.2575A= (p.Asn859=) c.2683A= (p.Asn895=) c.2665A= (p.Asn889=) c.2389A= (p.Asn797=) n.2964A= c.2557A= (p.Asn853=) c.2371A= (p.Asn791=) n.2967A= c.2662A= (p.Asn888=) c.2728A= (p.Asn910=) c.2680A= (p.Asn894=) c.2545A= (p.Asn849=) | |
16 | g.28835597A>C | CA395408122 | ATXN2L | c.2734A>C (p.Asn912His) c.709A>C (p.Asn237His) n.3108A>C c.2752A>C (p.Asn918His) c.1798A>C (n.1798A>C) c.3A>C c.712A>C (p.Asn238His) c.254A>C c.2755A>C (p.Asn919His) c.2737A>C (p.Asn913His) c.2575A>C (p.Asn859His) c.2683A>C (p.Asn895His) c.2665A>C (p.Asn889His) c.2389A>C (p.Asn797His) n.2964A>C c.2557A>C (p.Asn853His) c.2371A>C (p.Asn791His) n.2967A>C c.2662A>C (p.Asn888His) c.2728A>C (p.Asn910His) c.2680A>C (p.Asn894His) c.2545A>C (p.Asn849His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835597A>G | CA395408126 | ATXN2L | c.2734A>G (p.Asn912Asp) c.709A>G (p.Asn237Asp) n.3108A>G c.2752A>G (p.Asn918Asp) c.1798A>G (n.1798A>G) c.3A>G c.712A>G (p.Asn238Asp) c.254A>G c.2755A>G (p.Asn919Asp) c.2737A>G (p.Asn913Asp) c.2575A>G (p.Asn859Asp) c.2683A>G (p.Asn895Asp) c.2665A>G (p.Asn889Asp) c.2389A>G (p.Asn797Asp) n.2964A>G c.2557A>G (p.Asn853Asp) c.2371A>G (p.Asn791Asp) n.2967A>G c.2662A>G (p.Asn888Asp) c.2728A>G (p.Asn910Asp) c.2680A>G (p.Asn894Asp) c.2545A>G (p.Asn849Asp) | |
16 | g.28835597A>T | CA395408124 | ATXN2L | c.2734A>T (p.Asn912Tyr) c.709A>T (p.Asn237Tyr) n.3108A>T c.2752A>T (p.Asn918Tyr) c.1798A>T (n.1798A>T) c.3A>T c.712A>T (p.Asn238Tyr) c.254A>T c.2755A>T (p.Asn919Tyr) c.2737A>T (p.Asn913Tyr) c.2575A>T (p.Asn859Tyr) c.2683A>T (p.Asn895Tyr) c.2665A>T (p.Asn889Tyr) c.2389A>T (p.Asn797Tyr) n.2964A>T c.2557A>T (p.Asn853Tyr) c.2371A>T (p.Asn791Tyr) n.2967A>T c.2662A>T (p.Asn888Tyr) c.2728A>T (p.Asn910Tyr) c.2680A>T (p.Asn894Tyr) c.2545A>T (p.Asn849Tyr) | |
16 | g.28835598A>C | CA395408128 | ATXN2L | c.2735A>C (p.Asn912Thr) c.710A>C (p.Asn237Thr) n.3109A>C c.2753A>C (p.Asn918Thr) c.1799A>C (n.1799A>C) c.4A>C c.713A>C (p.Asn238Thr) c.255A>C c.2756A>C (p.Asn919Thr) c.2738A>C (p.Asn913Thr) c.2576A>C (p.Asn859Thr) c.2684A>C (p.Asn895Thr) c.2666A>C (p.Asn889Thr) c.2390A>C (p.Asn797Thr) n.2965A>C c.2558A>C (p.Asn853Thr) c.2372A>C (p.Asn791Thr) n.2968A>C c.2663A>C (p.Asn888Thr) c.2729A>C (p.Asn910Thr) c.2681A>C (p.Asn894Thr) c.2546A>C (p.Asn849Thr) | |
16 | g.28835598A>G | CA395408130 | ATXN2L | c.2735A>G (p.Asn912Ser) c.710A>G (p.Asn237Ser) n.3109A>G c.2753A>G (p.Asn918Ser) c.1799A>G (n.1799A>G) c.4A>G c.713A>G (p.Asn238Ser) c.255A>G c.2756A>G (p.Asn919Ser) c.2738A>G (p.Asn913Ser) c.2576A>G (p.Asn859Ser) c.2684A>G (p.Asn895Ser) c.2666A>G (p.Asn889Ser) c.2390A>G (p.Asn797Ser) n.2965A>G c.2558A>G (p.Asn853Ser) c.2372A>G (p.Asn791Ser) n.2968A>G c.2663A>G (p.Asn888Ser) c.2729A>G (p.Asn910Ser) c.2681A>G (p.Asn894Ser) c.2546A>G (p.Asn849Ser) | gnomAD v4 |
16 | g.28835598A>T | CA395408131 | ATXN2L | c.2735A>T (p.Asn912Ile) c.710A>T (p.Asn237Ile) n.3109A>T c.2753A>T (p.Asn918Ile) c.1799A>T (n.1799A>T) c.4A>T c.713A>T (p.Asn238Ile) c.255A>T c.2756A>T (p.Asn919Ile) c.2738A>T (p.Asn913Ile) c.2576A>T (p.Asn859Ile) c.2684A>T (p.Asn895Ile) c.2666A>T (p.Asn889Ile) c.2390A>T (p.Asn797Ile) n.2965A>T c.2558A>T (p.Asn853Ile) c.2372A>T (p.Asn791Ile) n.2968A>T c.2663A>T (p.Asn888Ile) c.2729A>T (p.Asn910Ile) c.2681A>T (p.Asn894Ile) c.2546A>T (p.Asn849Ile) | |
16 | g.28835599T>A | CA395408132 | ATXN2L | c.2736T>A (p.Asn912Lys) c.711T>A (p.Asn237Lys) n.3110T>A c.2754T>A (p.Asn918Lys) c.1800T>A (n.1800T>A) c.5T>A c.714T>A (p.Asn238Lys) c.256T>A c.2757T>A (p.Asn919Lys) c.2739T>A (p.Asn913Lys) c.2577T>A (p.Asn859Lys) c.2685T>A (p.Asn895Lys) c.2667T>A (p.Asn889Lys) c.2391T>A (p.Asn797Lys) n.2966T>A c.2559T>A (p.Asn853Lys) c.2373T>A (p.Asn791Lys) n.2969T>A c.2664T>A (p.Asn888Lys) c.2730T>A (p.Asn910Lys) c.2682T>A (p.Asn894Lys) c.2547T>A (p.Asn849Lys) | gnomAD v4 |
16 | g.28835599T>C | CA494868395 | ATXN2L | c.2736T>C (p.Asn912=) c.711T>C (p.Asn237=) n.3110T>C c.2754T>C (p.Asn918=) c.1800T>C (n.1800T>C) c.5T>C c.714T>C (p.Asn238=) c.256T>C c.2757T>C (p.Asn919=) c.2739T>C (p.Asn913=) c.2577T>C (p.Asn859=) c.2685T>C (p.Asn895=) c.2667T>C (p.Asn889=) c.2391T>C (p.Asn797=) n.2966T>C c.2559T>C (p.Asn853=) c.2373T>C (p.Asn791=) n.2969T>C c.2664T>C (p.Asn888=) c.2730T>C (p.Asn910=) c.2682T>C (p.Asn894=) c.2547T>C (p.Asn849=) | |
16 | g.28835599T>G | CA395408133 | ATXN2L | c.2736T>G (p.Asn912Lys) c.711T>G (p.Asn237Lys) n.3110T>G c.2754T>G (p.Asn918Lys) c.1800T>G (n.1800T>G) c.5T>G c.714T>G (p.Asn238Lys) c.256T>G c.2757T>G (p.Asn919Lys) c.2739T>G (p.Asn913Lys) c.2577T>G (p.Asn859Lys) c.2685T>G (p.Asn895Lys) c.2667T>G (p.Asn889Lys) c.2391T>G (p.Asn797Lys) n.2966T>G c.2559T>G (p.Asn853Lys) c.2373T>G (p.Asn791Lys) n.2969T>G c.2664T>G (p.Asn888Lys) c.2730T>G (p.Asn910Lys) c.2682T>G (p.Asn894Lys) c.2547T>G (p.Asn849Lys) | |
16 | g.28835600C>A | CA395408136 | ATXN2L | c.2737C>A (p.Leu913Met) c.712C>A (p.Leu238Met) n.3111C>A c.2755C>A (p.Leu919Met) c.1801C>A (n.1801C>A) c.6C>A c.715C>A (p.Leu239Met) c.257C>A c.2758C>A (p.Leu920Met) c.2740C>A (p.Leu914Met) c.2578C>A (p.Leu860Met) c.2686C>A (p.Leu896Met) c.2668C>A (p.Leu890Met) c.2392C>A (p.Leu798Met) n.2967C>A c.2560C>A (p.Leu854Met) c.2374C>A (p.Leu792Met) n.2970C>A c.2665C>A (p.Leu889Met) c.2731C>A (p.Leu911Met) c.2683C>A (p.Leu895Met) c.2548C>A (p.Leu850Met) | |
16 | g.28835600C= | CA2215806303 | ATXN2L | c.2737C= (p.Leu913=) c.712C= (p.Leu238=) n.3111C= c.2755C= (p.Leu919=) c.1801C= (n.1801C=) c.6C= c.715C= (p.Leu239=) c.257C= c.2758C= (p.Leu920=) c.2740C= (p.Leu914=) c.2578C= (p.Leu860=) c.2686C= (p.Leu896=) c.2668C= (p.Leu890=) c.2392C= (p.Leu798=) n.2967C= c.2560C= (p.Leu854=) c.2374C= (p.Leu792=) n.2970C= c.2665C= (p.Leu889=) c.2731C= (p.Leu911=) c.2683C= (p.Leu895=) c.2548C= (p.Leu850=) | |
16 | g.28835600C>G | CA395408137 | ATXN2L | c.2737C>G (p.Leu913Val) c.712C>G (p.Leu238Val) n.3111C>G c.2755C>G (p.Leu919Val) c.1801C>G (n.1801C>G) c.6C>G c.715C>G (p.Leu239Val) c.257C>G c.2758C>G (p.Leu920Val) c.2740C>G (p.Leu914Val) c.2578C>G (p.Leu860Val) c.2686C>G (p.Leu896Val) c.2668C>G (p.Leu890Val) c.2392C>G (p.Leu798Val) n.2967C>G c.2560C>G (p.Leu854Val) c.2374C>G (p.Leu792Val) n.2970C>G c.2665C>G (p.Leu889Val) c.2731C>G (p.Leu911Val) c.2683C>G (p.Leu895Val) c.2548C>G (p.Leu850Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28835600C>T | CA494868400 | ATXN2L | c.2737C>T (p.Leu913=) c.712C>T (p.Leu238=) n.3111C>T c.2755C>T (p.Leu919=) c.1801C>T (n.1801C>T) c.6C>T c.715C>T (p.Leu239=) c.257C>T c.2758C>T (p.Leu920=) c.2740C>T (p.Leu914=) c.2578C>T (p.Leu860=) c.2686C>T (p.Leu896=) c.2668C>T (p.Leu890=) c.2392C>T (p.Leu798=) n.2967C>T c.2560C>T (p.Leu854=) c.2374C>T (p.Leu792=) n.2970C>T c.2665C>T (p.Leu889=) c.2731C>T (p.Leu911=) c.2683C>T (p.Leu895=) c.2548C>T (p.Leu850=) | |
16 | g.28835601T>A | CA395408139 | ATXN2L | c.2738T>A (p.Leu913Gln) c.713T>A (p.Leu238Gln) n.3112T>A c.2756T>A (p.Leu919Gln) c.1802T>A (n.1802T>A) c.7T>A c.716T>A (p.Leu239Gln) c.258T>A c.2759T>A (p.Leu920Gln) c.2741T>A (p.Leu914Gln) c.2579T>A (p.Leu860Gln) c.2687T>A (p.Leu896Gln) c.2669T>A (p.Leu890Gln) c.2393T>A (p.Leu798Gln) n.2968T>A c.2561T>A (p.Leu854Gln) c.2375T>A (p.Leu792Gln) n.2971T>A c.2666T>A (p.Leu889Gln) c.2732T>A (p.Leu911Gln) c.2684T>A (p.Leu895Gln) c.2549T>A (p.Leu850Gln) | |
16 | g.28835601T>C | CA395408141 | ATXN2L | c.2738T>C (p.Leu913Pro) c.713T>C (p.Leu238Pro) n.3112T>C c.2756T>C (p.Leu919Pro) c.1802T>C (n.1802T>C) c.7T>C c.716T>C (p.Leu239Pro) c.258T>C c.2759T>C (p.Leu920Pro) c.2741T>C (p.Leu914Pro) c.2579T>C (p.Leu860Pro) c.2687T>C (p.Leu896Pro) c.2669T>C (p.Leu890Pro) c.2393T>C (p.Leu798Pro) n.2968T>C c.2561T>C (p.Leu854Pro) c.2375T>C (p.Leu792Pro) n.2971T>C c.2666T>C (p.Leu889Pro) c.2732T>C (p.Leu911Pro) c.2684T>C (p.Leu895Pro) c.2549T>C (p.Leu850Pro) | |
16 | g.28835601T>G | CA395408143 | ATXN2L | c.2738T>G (p.Leu913Arg) c.713T>G (p.Leu238Arg) n.3112T>G c.2756T>G (p.Leu919Arg) c.1802T>G (n.1802T>G) c.7T>G c.716T>G (p.Leu239Arg) c.258T>G c.2759T>G (p.Leu920Arg) c.2741T>G (p.Leu914Arg) c.2579T>G (p.Leu860Arg) c.2687T>G (p.Leu896Arg) c.2669T>G (p.Leu890Arg) c.2393T>G (p.Leu798Arg) n.2968T>G c.2561T>G (p.Leu854Arg) c.2375T>G (p.Leu792Arg) n.2971T>G c.2666T>G (p.Leu889Arg) c.2732T>G (p.Leu911Arg) c.2684T>G (p.Leu895Arg) c.2549T>G (p.Leu850Arg) | |
16 | g.28835602G>A | CA494868407 | ATXN2L | c.2739G>A (p.Leu913=) c.714G>A (p.Leu238=) n.3113G>A c.2757G>A (p.Leu919=) c.1803G>A (n.1803G>A) c.8G>A c.717G>A (p.Leu239=) c.259G>A c.2760G>A (p.Leu920=) c.2742G>A (p.Leu914=) c.2580G>A (p.Leu860=) c.2688G>A (p.Leu896=) c.2670G>A (p.Leu890=) c.2394G>A (p.Leu798=) n.2969G>A c.2562G>A (p.Leu854=) c.2376G>A (p.Leu792=) n.2972G>A c.2667G>A (p.Leu889=) c.2733G>A (p.Leu911=) c.2685G>A (p.Leu895=) c.2550G>A (p.Leu850=) | |
16 | g.28835602G>C | CA494868408 | ATXN2L | c.2739G>C (p.Leu913=) c.714G>C (p.Leu238=) n.3113G>C c.2757G>C (p.Leu919=) c.1803G>C (n.1803G>C) c.8G>C c.717G>C (p.Leu239=) c.259G>C c.2760G>C (p.Leu920=) c.2742G>C (p.Leu914=) c.2580G>C (p.Leu860=) c.2688G>C (p.Leu896=) c.2670G>C (p.Leu890=) c.2394G>C (p.Leu798=) n.2969G>C c.2562G>C (p.Leu854=) c.2376G>C (p.Leu792=) n.2972G>C c.2667G>C (p.Leu889=) c.2733G>C (p.Leu911=) c.2685G>C (p.Leu895=) c.2550G>C (p.Leu850=) | |
16 | g.28835602G>T | CA494868409 | ATXN2L | c.2739G>T (p.Leu913=) c.714G>T (p.Leu238=) n.3113G>T c.2757G>T (p.Leu919=) c.1803G>T (n.1803G>T) c.8G>T c.717G>T (p.Leu239=) c.259G>T c.2760G>T (p.Leu920=) c.2742G>T (p.Leu914=) c.2580G>T (p.Leu860=) c.2688G>T (p.Leu896=) c.2670G>T (p.Leu890=) c.2394G>T (p.Leu798=) n.2969G>T c.2562G>T (p.Leu854=) c.2376G>T (p.Leu792=) n.2972G>T c.2667G>T (p.Leu889=) c.2733G>T (p.Leu911=) c.2685G>T (p.Leu895=) c.2550G>T (p.Leu850=) | |
16 | g.28835603T>A | CA395408147 | ATXN2L | c.2740T>A (p.Tyr914Asn) c.715T>A (p.Tyr239Asn) n.3114T>A c.2758T>A (p.Tyr920Asn) c.1804T>A (n.1804T>A) c.9T>A c.718T>A (p.Tyr240Asn) c.260T>A c.2761T>A (p.Tyr921Asn) c.2743T>A (p.Tyr915Asn) c.2581T>A (p.Tyr861Asn) c.2689T>A (p.Tyr897Asn) c.2671T>A (p.Tyr891Asn) c.2395T>A (p.Tyr799Asn) n.2970T>A c.2563T>A (p.Tyr855Asn) c.2377T>A (p.Tyr793Asn) n.2973T>A c.2668T>A (p.Tyr890Asn) c.2734T>A (p.Tyr912Asn) c.2686T>A (p.Tyr896Asn) c.2551T>A (p.Tyr851Asn) | |
16 | g.28835603T>C | CA395408148 | ATXN2L | c.2740T>C (p.Tyr914His) c.715T>C (p.Tyr239His) n.3114T>C c.2758T>C (p.Tyr920His) c.1804T>C (n.1804T>C) c.9T>C c.718T>C (p.Tyr240His) c.260T>C c.2761T>C (p.Tyr921His) c.2743T>C (p.Tyr915His) c.2581T>C (p.Tyr861His) c.2689T>C (p.Tyr897His) c.2671T>C (p.Tyr891His) c.2395T>C (p.Tyr799His) n.2970T>C c.2563T>C (p.Tyr855His) c.2377T>C (p.Tyr793His) n.2973T>C c.2668T>C (p.Tyr890His) c.2734T>C (p.Tyr912His) c.2686T>C (p.Tyr896His) c.2551T>C (p.Tyr851His) | |
16 | g.28835603T>G | CA395408145 | ATXN2L | c.2740T>G (p.Tyr914Asp) c.715T>G (p.Tyr239Asp) n.3114T>G c.2758T>G (p.Tyr920Asp) c.1804T>G (n.1804T>G) c.9T>G c.718T>G (p.Tyr240Asp) c.260T>G c.2761T>G (p.Tyr921Asp) c.2743T>G (p.Tyr915Asp) c.2581T>G (p.Tyr861Asp) c.2689T>G (p.Tyr897Asp) c.2671T>G (p.Tyr891Asp) c.2395T>G (p.Tyr799Asp) n.2970T>G c.2563T>G (p.Tyr855Asp) c.2377T>G (p.Tyr793Asp) n.2973T>G c.2668T>G (p.Tyr890Asp) c.2734T>G (p.Tyr912Asp) c.2686T>G (p.Tyr896Asp) c.2551T>G (p.Tyr851Asp) | |
16 | g.28835604A>C | CA395408150 | ATXN2L | c.2741A>C (p.Tyr914Ser) c.716A>C (p.Tyr239Ser) n.3115A>C c.2759A>C (p.Tyr920Ser) c.1805A>C (n.1805A>C) c.10A>C c.719A>C (p.Tyr240Ser) c.261A>C c.2762A>C (p.Tyr921Ser) c.2744A>C (p.Tyr915Ser) c.2582A>C (p.Tyr861Ser) c.2690A>C (p.Tyr897Ser) c.2672A>C (p.Tyr891Ser) c.2396A>C (p.Tyr799Ser) n.2971A>C c.2564A>C (p.Tyr855Ser) c.2378A>C (p.Tyr793Ser) n.2974A>C c.2669A>C (p.Tyr890Ser) c.2735A>C (p.Tyr912Ser) c.2687A>C (p.Tyr896Ser) c.2552A>C (p.Tyr851Ser) | |
16 | g.28835604A>G | CA395408152 | ATXN2L | c.2741A>G (p.Tyr914Cys) c.716A>G (p.Tyr239Cys) n.3115A>G c.2759A>G (p.Tyr920Cys) c.1805A>G (n.1805A>G) c.10A>G c.719A>G (p.Tyr240Cys) c.261A>G c.2762A>G (p.Tyr921Cys) c.2744A>G (p.Tyr915Cys) c.2582A>G (p.Tyr861Cys) c.2690A>G (p.Tyr897Cys) c.2672A>G (p.Tyr891Cys) c.2396A>G (p.Tyr799Cys) n.2971A>G c.2564A>G (p.Tyr855Cys) c.2378A>G (p.Tyr793Cys) n.2974A>G c.2669A>G (p.Tyr890Cys) c.2735A>G (p.Tyr912Cys) c.2687A>G (p.Tyr896Cys) c.2552A>G (p.Tyr851Cys) | |
16 | g.28835604A>T | CA395408154 | ATXN2L | c.2741A>T (p.Tyr914Phe) c.716A>T (p.Tyr239Phe) n.3115A>T c.2759A>T (p.Tyr920Phe) c.1805A>T (n.1805A>T) c.10A>T c.719A>T (p.Tyr240Phe) c.261A>T c.2762A>T (p.Tyr921Phe) c.2744A>T (p.Tyr915Phe) c.2582A>T (p.Tyr861Phe) c.2690A>T (p.Tyr897Phe) c.2672A>T (p.Tyr891Phe) c.2396A>T (p.Tyr799Phe) n.2971A>T c.2564A>T (p.Tyr855Phe) c.2378A>T (p.Tyr793Phe) n.2974A>T c.2669A>T (p.Tyr890Phe) c.2735A>T (p.Tyr912Phe) c.2687A>T (p.Tyr896Phe) c.2552A>T (p.Tyr851Phe) | |
16 | g.28835605C>A | CA395408156 | ATXN2L | c.2742C>A (p.Tyr914Ter) c.717C>A (p.Tyr239Ter) n.3116C>A c.2760C>A (p.Tyr920Ter) c.1806C>A (n.1806C>A) c.11C>A c.720C>A (p.Tyr240Ter) c.262C>A c.2763C>A (p.Tyr921Ter) c.2745C>A (p.Tyr915Ter) c.2583C>A (p.Tyr861Ter) c.2691C>A (p.Tyr897Ter) c.2673C>A (p.Tyr891Ter) c.2397C>A (p.Tyr799Ter) n.2972C>A c.2565C>A (p.Tyr855Ter) c.2379C>A (p.Tyr793Ter) n.2975C>A c.2670C>A (p.Tyr890Ter) c.2736C>A (p.Tyr912Ter) c.2688C>A (p.Tyr896Ter) c.2553C>A (p.Tyr851Ter) | |
16 | g.28835605C>G | CA395408158 | ATXN2L | c.2742C>G (p.Tyr914Ter) c.717C>G (p.Tyr239Ter) n.3116C>G c.2760C>G (p.Tyr920Ter) c.1806C>G (n.1806C>G) c.11C>G c.720C>G (p.Tyr240Ter) c.262C>G c.2763C>G (p.Tyr921Ter) c.2745C>G (p.Tyr915Ter) c.2583C>G (p.Tyr861Ter) c.2691C>G (p.Tyr897Ter) c.2673C>G (p.Tyr891Ter) c.2397C>G (p.Tyr799Ter) n.2972C>G c.2565C>G (p.Tyr855Ter) c.2379C>G (p.Tyr793Ter) n.2975C>G c.2670C>G (p.Tyr890Ter) c.2736C>G (p.Tyr912Ter) c.2688C>G (p.Tyr896Ter) c.2553C>G (p.Tyr851Ter) | |
16 | g.28835605C>T | CA494868415 | ATXN2L | c.2742C>T (p.Tyr914=) c.717C>T (p.Tyr239=) n.3116C>T c.2760C>T (p.Tyr920=) c.1806C>T (n.1806C>T) c.11C>T c.720C>T (p.Tyr240=) c.262C>T c.2763C>T (p.Tyr921=) c.2745C>T (p.Tyr915=) c.2583C>T (p.Tyr861=) c.2691C>T (p.Tyr897=) c.2673C>T (p.Tyr891=) c.2397C>T (p.Tyr799=) n.2972C>T c.2565C>T (p.Tyr855=) c.2379C>T (p.Tyr793=) n.2975C>T c.2670C>T (p.Tyr890=) c.2736C>T (p.Tyr912=) c.2688C>T (p.Tyr896=) c.2553C>T (p.Tyr851=) | gnomAD v4 |
16 | g.28835606C>A | CA395408159 | ATXN2L | c.2743C>A (p.His915Asn) c.718C>A (p.His240Asn) n.3117C>A c.2761C>A (p.His921Asn) c.1807C>A (n.1807C>A) c.12C>A c.721C>A (p.His241Asn) c.263C>A c.2764C>A (p.His922Asn) c.2746C>A (p.His916Asn) c.2584C>A (p.His862Asn) c.2692C>A (p.His898Asn) c.2674C>A (p.His892Asn) c.2398C>A (p.His800Asn) n.2973C>A c.2566C>A (p.His856Asn) c.2380C>A (p.His794Asn) n.2976C>A c.2671C>A (p.His891Asn) c.2737C>A (p.His913Asn) c.2689C>A (p.His897Asn) c.2554C>A (p.His852Asn) | |
16 | g.28835606C>G | CA395408161 | ATXN2L | c.2743C>G (p.His915Asp) c.718C>G (p.His240Asp) n.3117C>G c.2761C>G (p.His921Asp) c.1807C>G (n.1807C>G) c.12C>G c.721C>G (p.His241Asp) c.263C>G c.2764C>G (p.His922Asp) c.2746C>G (p.His916Asp) c.2584C>G (p.His862Asp) c.2692C>G (p.His898Asp) c.2674C>G (p.His892Asp) c.2398C>G (p.His800Asp) n.2973C>G c.2566C>G (p.His856Asp) c.2380C>G (p.His794Asp) n.2976C>G c.2671C>G (p.His891Asp) c.2737C>G (p.His913Asp) c.2689C>G (p.His897Asp) c.2554C>G (p.His852Asp) | |
16 | g.28835606C>T | CA395408162 | ATXN2L | c.2743C>T (p.His915Tyr) c.718C>T (p.His240Tyr) n.3117C>T c.2761C>T (p.His921Tyr) c.1807C>T (n.1807C>T) c.12C>T c.721C>T (p.His241Tyr) c.263C>T c.2764C>T (p.His922Tyr) c.2746C>T (p.His916Tyr) c.2584C>T (p.His862Tyr) c.2692C>T (p.His898Tyr) c.2674C>T (p.His892Tyr) c.2398C>T (p.His800Tyr) n.2973C>T c.2566C>T (p.His856Tyr) c.2380C>T (p.His794Tyr) n.2976C>T c.2671C>T (p.His891Tyr) c.2737C>T (p.His913Tyr) c.2689C>T (p.His897Tyr) c.2554C>T (p.His852Tyr) | gnomAD v4 |
16 | g.28835607A>C | CA395408164 | ATXN2L | c.2744A>C (p.His915Pro) c.719A>C (p.His240Pro) n.3118A>C c.2762A>C (p.His921Pro) c.1808A>C (n.1808A>C) c.13A>C c.722A>C (p.His241Pro) c.264A>C c.2765A>C (p.His922Pro) c.2747A>C (p.His916Pro) c.2585A>C (p.His862Pro) c.2693A>C (p.His898Pro) c.2675A>C (p.His892Pro) c.2399A>C (p.His800Pro) n.2974A>C c.2567A>C (p.His856Pro) c.2381A>C (p.His794Pro) n.2977A>C c.2672A>C (p.His891Pro) c.2738A>C (p.His913Pro) c.2690A>C (p.His897Pro) c.2555A>C (p.His852Pro) | |
16 | g.28835607A>G | CA395408166 | ATXN2L | c.2744A>G (p.His915Arg) c.719A>G (p.His240Arg) n.3118A>G c.2762A>G (p.His921Arg) c.1808A>G (n.1808A>G) c.13A>G c.722A>G (p.His241Arg) c.264A>G c.2765A>G (p.His922Arg) c.2747A>G (p.His916Arg) c.2585A>G (p.His862Arg) c.2693A>G (p.His898Arg) c.2675A>G (p.His892Arg) c.2399A>G (p.His800Arg) n.2974A>G c.2567A>G (p.His856Arg) c.2381A>G (p.His794Arg) n.2977A>G c.2672A>G (p.His891Arg) c.2738A>G (p.His913Arg) c.2690A>G (p.His897Arg) c.2555A>G (p.His852Arg) | |
16 | g.28835607A>T | CA395408167 | ATXN2L | c.2744A>T (p.His915Leu) c.719A>T (p.His240Leu) n.3118A>T c.2762A>T (p.His921Leu) c.1808A>T (n.1808A>T) c.13A>T c.722A>T (p.His241Leu) c.264A>T c.2765A>T (p.His922Leu) c.2747A>T (p.His916Leu) c.2585A>T (p.His862Leu) c.2693A>T (p.His898Leu) c.2675A>T (p.His892Leu) c.2399A>T (p.His800Leu) n.2974A>T c.2567A>T (p.His856Leu) c.2381A>T (p.His794Leu) n.2977A>T c.2672A>T (p.His891Leu) c.2738A>T (p.His913Leu) c.2690A>T (p.His897Leu) c.2555A>T (p.His852Leu) | |
16 | g.28835608C>A | CA395408169 | ATXN2L | c.2745C>A (p.His915Gln) c.720C>A (p.His240Gln) n.3119C>A c.2763C>A (p.His921Gln) c.1809C>A (n.1809C>A) c.14C>A c.723C>A (p.His241Gln) c.265C>A c.2766C>A (p.His922Gln) c.2748C>A (p.His916Gln) c.2586C>A (p.His862Gln) c.2694C>A (p.His898Gln) c.2676C>A (p.His892Gln) c.2400C>A (p.His800Gln) n.2975C>A c.2568C>A (p.His856Gln) c.2382C>A (p.His794Gln) n.2978C>A c.2673C>A (p.His891Gln) c.2739C>A (p.His913Gln) c.2691C>A (p.His897Gln) c.2556C>A (p.His852Gln) | |
16 | g.28835608C>G | CA395408171 | ATXN2L | c.2745C>G (p.His915Gln) c.720C>G (p.His240Gln) n.3119C>G c.2763C>G (p.His921Gln) c.1809C>G (n.1809C>G) c.14C>G c.723C>G (p.His241Gln) c.265C>G c.2766C>G (p.His922Gln) c.2748C>G (p.His916Gln) c.2586C>G (p.His862Gln) c.2694C>G (p.His898Gln) c.2676C>G (p.His892Gln) c.2400C>G (p.His800Gln) n.2975C>G c.2568C>G (p.His856Gln) c.2382C>G (p.His794Gln) n.2978C>G c.2673C>G (p.His891Gln) c.2739C>G (p.His913Gln) c.2691C>G (p.His897Gln) c.2556C>G (p.His852Gln) | |
16 | g.28835608C>T | CA494868471 | ATXN2L | c.2745C>T (p.His915=) c.720C>T (p.His240=) n.3119C>T c.2763C>T (p.His921=) c.1809C>T (n.1809C>T) c.14C>T c.723C>T (p.His241=) c.265C>T c.2766C>T (p.His922=) c.2748C>T (p.His916=) c.2586C>T (p.His862=) c.2694C>T (p.His898=) c.2676C>T (p.His892=) c.2400C>T (p.His800=) n.2975C>T c.2568C>T (p.His856=) c.2382C>T (p.His794=) n.2978C>T c.2673C>T (p.His891=) c.2739C>T (p.His913=) c.2691C>T (p.His897=) c.2556C>T (p.His852=) | gnomAD v4 |
16 | g.28835609C>A | CA395408176 | ATXN2L | c.2746C>A (p.Pro916Thr) c.721C>A (p.Pro241Thr) n.3120C>A c.2764C>A (p.Pro922Thr) c.1810C>A (n.1810C>A) c.15C>A c.724C>A (p.Pro242Thr) c.266C>A c.2767C>A (p.Pro923Thr) c.2749C>A (p.Pro917Thr) c.2587C>A (p.Pro863Thr) c.2695C>A (p.Pro899Thr) c.2677C>A (p.Pro893Thr) c.2401C>A (p.Pro801Thr) n.2976C>A c.2569C>A (p.Pro857Thr) c.2383C>A (p.Pro795Thr) n.2979C>A c.2674C>A (p.Pro892Thr) c.2740C>A (p.Pro914Thr) c.2692C>A (p.Pro898Thr) c.2557C>A (p.Pro853Thr) | |
16 | g.28835609C= | CA2215806305 | ATXN2L | c.2746C= (p.Pro916=) c.721C= (p.Pro241=) n.3120C= c.2764C= (p.Pro922=) c.1810C= (n.1810C=) c.15C= c.724C= (p.Pro242=) c.266C= c.2767C= (p.Pro923=) c.2749C= (p.Pro917=) c.2587C= (p.Pro863=) c.2695C= (p.Pro899=) c.2677C= (p.Pro893=) c.2401C= (p.Pro801=) n.2976C= c.2569C= (p.Pro857=) c.2383C= (p.Pro795=) n.2979C= c.2674C= (p.Pro892=) c.2740C= (p.Pro914=) c.2692C= (p.Pro898=) c.2557C= (p.Pro853=) | |
16 | g.28835609C>G | CA395408174 | ATXN2L | c.2746C>G (p.Pro916Ala) c.721C>G (p.Pro241Ala) n.3120C>G c.2764C>G (p.Pro922Ala) c.1810C>G (n.1810C>G) c.15C>G c.724C>G (p.Pro242Ala) c.266C>G c.2767C>G (p.Pro923Ala) c.2749C>G (p.Pro917Ala) c.2587C>G (p.Pro863Ala) c.2695C>G (p.Pro899Ala) c.2677C>G (p.Pro893Ala) c.2401C>G (p.Pro801Ala) n.2976C>G c.2569C>G (p.Pro857Ala) c.2383C>G (p.Pro795Ala) n.2979C>G c.2674C>G (p.Pro892Ala) c.2740C>G (p.Pro914Ala) c.2692C>G (p.Pro898Ala) c.2557C>G (p.Pro853Ala) | gnomAD v4 |
16 | g.28835609C>T | CA7985083 | ATXN2L | c.2746C>T (p.Pro916Ser) c.721C>T (p.Pro241Ser) n.3120C>T c.2764C>T (p.Pro922Ser) c.1810C>T (n.1810C>T) c.15C>T c.724C>T (p.Pro242Ser) c.266C>T c.2767C>T (p.Pro923Ser) c.2749C>T (p.Pro917Ser) c.2587C>T (p.Pro863Ser) c.2695C>T (p.Pro899Ser) c.2677C>T (p.Pro893Ser) c.2401C>T (p.Pro801Ser) n.2976C>T c.2569C>T (p.Pro857Ser) c.2383C>T (p.Pro795Ser) n.2979C>T c.2674C>T (p.Pro892Ser) c.2740C>T (p.Pro914Ser) c.2692C>T (p.Pro898Ser) c.2557C>T (p.Pro853Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835610C>A | CA395408177 | ATXN2L | c.2747C>A (p.Pro916Gln) c.722C>A (p.Pro241Gln) n.3121C>A c.2765C>A (p.Pro922Gln) c.1811C>A (n.1811C>A) c.16C>A c.725C>A (p.Pro242Gln) c.267C>A c.2768C>A (p.Pro923Gln) c.2750C>A (p.Pro917Gln) c.2588C>A (p.Pro863Gln) c.2696C>A (p.Pro899Gln) c.2678C>A (p.Pro893Gln) c.2402C>A (p.Pro801Gln) n.2977C>A c.2570C>A (p.Pro857Gln) c.2384C>A (p.Pro795Gln) n.2980C>A c.2675C>A (p.Pro892Gln) c.2741C>A (p.Pro914Gln) c.2693C>A (p.Pro898Gln) c.2558C>A (p.Pro853Gln) | |
16 | g.28835610C>G | CA395408179 | ATXN2L | c.2747C>G (p.Pro916Arg) c.722C>G (p.Pro241Arg) n.3121C>G c.2765C>G (p.Pro922Arg) c.1811C>G (n.1811C>G) c.16C>G c.725C>G (p.Pro242Arg) c.267C>G c.2768C>G (p.Pro923Arg) c.2750C>G (p.Pro917Arg) c.2588C>G (p.Pro863Arg) c.2696C>G (p.Pro899Arg) c.2678C>G (p.Pro893Arg) c.2402C>G (p.Pro801Arg) n.2977C>G c.2570C>G (p.Pro857Arg) c.2384C>G (p.Pro795Arg) n.2980C>G c.2675C>G (p.Pro892Arg) c.2741C>G (p.Pro914Arg) c.2693C>G (p.Pro898Arg) c.2558C>G (p.Pro853Arg) | |
16 | g.28835610C>T | CA395408181 | ATXN2L | c.2747C>T (p.Pro916Leu) c.722C>T (p.Pro241Leu) n.3121C>T c.2765C>T (p.Pro922Leu) c.1811C>T (n.1811C>T) c.16C>T c.725C>T (p.Pro242Leu) c.267C>T c.2768C>T (p.Pro923Leu) c.2750C>T (p.Pro917Leu) c.2588C>T (p.Pro863Leu) c.2696C>T (p.Pro899Leu) c.2678C>T (p.Pro893Leu) c.2402C>T (p.Pro801Leu) n.2977C>T c.2570C>T (p.Pro857Leu) c.2384C>T (p.Pro795Leu) n.2980C>T c.2675C>T (p.Pro892Leu) c.2741C>T (p.Pro914Leu) c.2693C>T (p.Pro898Leu) c.2558C>T (p.Pro853Leu) | |
16 | g.28835611A>C | CA494868523 | ATXN2L | c.2748A>C (p.Pro916=) c.723A>C (p.Pro241=) n.3122A>C c.2766A>C (p.Pro922=) c.1812A>C (n.1812A>C) c.17A>C c.726A>C (p.Pro242=) c.268A>C c.2769A>C (p.Pro923=) c.2751A>C (p.Pro917=) c.2589A>C (p.Pro863=) c.2697A>C (p.Pro899=) c.2679A>C (p.Pro893=) c.2403A>C (p.Pro801=) n.2978A>C c.2571A>C (p.Pro857=) c.2385A>C (p.Pro795=) n.2981A>C c.2676A>C (p.Pro892=) c.2742A>C (p.Pro914=) c.2694A>C (p.Pro898=) c.2559A>C (p.Pro853=) | |
16 | g.28835611A>G | CA494868526 | ATXN2L | c.2748A>G (p.Pro916=) c.723A>G (p.Pro241=) n.3122A>G c.2766A>G (p.Pro922=) c.1812A>G (n.1812A>G) c.17A>G c.726A>G (p.Pro242=) c.268A>G c.2769A>G (p.Pro923=) c.2751A>G (p.Pro917=) c.2589A>G (p.Pro863=) c.2697A>G (p.Pro899=) c.2679A>G (p.Pro893=) c.2403A>G (p.Pro801=) n.2978A>G c.2571A>G (p.Pro857=) c.2385A>G (p.Pro795=) n.2981A>G c.2676A>G (p.Pro892=) c.2742A>G (p.Pro914=) c.2694A>G (p.Pro898=) c.2559A>G (p.Pro853=) | |
16 | g.28835611A>T | CA494868529 | ATXN2L | c.2748A>T (p.Pro916=) c.723A>T (p.Pro241=) n.3122A>T c.2766A>T (p.Pro922=) c.1812A>T (n.1812A>T) c.17A>T c.726A>T (p.Pro242=) c.268A>T c.2769A>T (p.Pro923=) c.2751A>T (p.Pro917=) c.2589A>T (p.Pro863=) c.2697A>T (p.Pro899=) c.2679A>T (p.Pro893=) c.2403A>T (p.Pro801=) n.2978A>T c.2571A>T (p.Pro857=) c.2385A>T (p.Pro795=) n.2981A>T c.2676A>T (p.Pro892=) c.2742A>T (p.Pro914=) c.2694A>T (p.Pro898=) c.2559A>T (p.Pro853=) | |
16 | g.28835612G>A | CA395408183 | ATXN2L | c.2749G>A (p.Gly917Arg) c.724G>A (p.Gly242Arg) n.3123G>A c.2767G>A (p.Gly923Arg) c.1813G>A (n.1813G>A) c.18G>A c.727G>A (p.Gly243Arg) c.269G>A c.2770G>A (p.Gly924Arg) c.2752G>A (p.Gly918Arg) c.2590G>A (p.Gly864Arg) c.2698G>A (p.Gly900Arg) c.2680G>A (p.Gly894Arg) c.2404G>A (p.Gly802Arg) n.2979G>A c.2572G>A (p.Gly858Arg) c.2386G>A (p.Gly796Arg) n.2982G>A c.2677G>A (p.Gly893Arg) c.2743G>A (p.Gly915Arg) c.2695G>A (p.Gly899Arg) c.2560G>A (p.Gly854Arg) | |
16 | g.28835612G>C | CA395408184 | ATXN2L | c.2749G>C (p.Gly917Arg) c.724G>C (p.Gly242Arg) n.3123G>C c.2767G>C (p.Gly923Arg) c.1813G>C (n.1813G>C) c.18G>C c.727G>C (p.Gly243Arg) c.269G>C c.2770G>C (p.Gly924Arg) c.2752G>C (p.Gly918Arg) c.2590G>C (p.Gly864Arg) c.2698G>C (p.Gly900Arg) c.2680G>C (p.Gly894Arg) c.2404G>C (p.Gly802Arg) n.2979G>C c.2572G>C (p.Gly858Arg) c.2386G>C (p.Gly796Arg) n.2982G>C c.2677G>C (p.Gly893Arg) c.2743G>C (p.Gly915Arg) c.2695G>C (p.Gly899Arg) c.2560G>C (p.Gly854Arg) | gnomAD v4 |
16 | g.28835612G>T | CA395408186 | ATXN2L | c.2749G>T (p.Gly917Trp) c.724G>T (p.Gly242Trp) n.3123G>T c.2767G>T (p.Gly923Trp) c.1813G>T (n.1813G>T) c.18G>T c.727G>T (p.Gly243Trp) c.269G>T c.2770G>T (p.Gly924Trp) c.2752G>T (p.Gly918Trp) c.2590G>T (p.Gly864Trp) c.2698G>T (p.Gly900Trp) c.2680G>T (p.Gly894Trp) c.2404G>T (p.Gly802Trp) n.2979G>T c.2572G>T (p.Gly858Trp) c.2386G>T (p.Gly796Trp) n.2982G>T c.2677G>T (p.Gly893Trp) c.2743G>T (p.Gly915Trp) c.2695G>T (p.Gly899Trp) c.2560G>T (p.Gly854Trp) | |
16 | g.28835613G>A | CA395408188 | ATXN2L | c.2750G>A (p.Gly917Glu) c.725G>A (p.Gly242Glu) n.3124G>A c.2768G>A (p.Gly923Glu) c.1814G>A (n.1814G>A) c.19G>A c.728G>A (p.Gly243Glu) c.270G>A c.2771G>A (p.Gly924Glu) c.2753G>A (p.Gly918Glu) c.2591G>A (p.Gly864Glu) c.2699G>A (p.Gly900Glu) c.2681G>A (p.Gly894Glu) c.2405G>A (p.Gly802Glu) n.2980G>A c.2573G>A (p.Gly858Glu) c.2387G>A (p.Gly796Glu) n.2983G>A c.2678G>A (p.Gly893Glu) c.2744G>A (p.Gly915Glu) c.2696G>A (p.Gly899Glu) c.2561G>A (p.Gly854Glu) | |
16 | g.28835613G>C | CA395408189 | ATXN2L | c.2750G>C (p.Gly917Ala) c.725G>C (p.Gly242Ala) n.3124G>C c.2768G>C (p.Gly923Ala) c.1814G>C (n.1814G>C) c.19G>C c.728G>C (p.Gly243Ala) c.270G>C c.2771G>C (p.Gly924Ala) c.2753G>C (p.Gly918Ala) c.2591G>C (p.Gly864Ala) c.2699G>C (p.Gly900Ala) c.2681G>C (p.Gly894Ala) c.2405G>C (p.Gly802Ala) n.2980G>C c.2573G>C (p.Gly858Ala) c.2387G>C (p.Gly796Ala) n.2983G>C c.2678G>C (p.Gly893Ala) c.2744G>C (p.Gly915Ala) c.2696G>C (p.Gly899Ala) c.2561G>C (p.Gly854Ala) | |
16 | g.28835613G= | CA2215806306 | ATXN2L | c.2750G= (p.Gly917=) c.725G= (p.Gly242=) n.3124G= c.2768G= (p.Gly923=) c.1814G= (n.1814G=) c.19G= c.728G= (p.Gly243=) c.270G= c.2771G= (p.Gly924=) c.2753G= (p.Gly918=) c.2591G= (p.Gly864=) c.2699G= (p.Gly900=) c.2681G= (p.Gly894=) c.2405G= (p.Gly802=) n.2980G= c.2573G= (p.Gly858=) c.2387G= (p.Gly796=) n.2983G= c.2678G= (p.Gly893=) c.2744G= (p.Gly915=) c.2696G= (p.Gly899=) c.2561G= (p.Gly854=) | |
16 | g.28835613G>T | CA7985084 | ATXN2L | c.2750G>T (p.Gly917Val) c.725G>T (p.Gly242Val) n.3124G>T c.2768G>T (p.Gly923Val) c.1814G>T (n.1814G>T) c.19G>T c.728G>T (p.Gly243Val) c.270G>T c.2771G>T (p.Gly924Val) c.2753G>T (p.Gly918Val) c.2591G>T (p.Gly864Val) c.2699G>T (p.Gly900Val) c.2681G>T (p.Gly894Val) c.2405G>T (p.Gly802Val) n.2980G>T c.2573G>T (p.Gly858Val) c.2387G>T (p.Gly796Val) n.2983G>T c.2678G>T (p.Gly893Val) c.2744G>T (p.Gly915Val) c.2696G>T (p.Gly899Val) c.2561G>T (p.Gly854Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835614G>A | CA7985085 | ATXN2L | c.2751G>A (p.Gly917=) c.726G>A (p.Gly242=) n.3125G>A c.2769G>A (p.Gly923=) c.1815G>A (n.1815G>A) c.20G>A c.729G>A (p.Gly243=) c.271G>A c.2772G>A (p.Gly924=) c.2754G>A (p.Gly918=) c.2592G>A (p.Gly864=) c.2700G>A (p.Gly900=) c.2682G>A (p.Gly894=) c.2406G>A (p.Gly802=) n.2981G>A c.2574G>A (p.Gly858=) c.2388G>A (p.Gly796=) n.2984G>A c.2679G>A (p.Gly893=) c.2745G>A (p.Gly915=) c.2697G>A (p.Gly899=) c.2562G>A (p.Gly854=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835614G>C | CA494868544 | ATXN2L | c.2751G>C (p.Gly917=) c.726G>C (p.Gly242=) n.3125G>C c.2769G>C (p.Gly923=) c.1815G>C (n.1815G>C) c.20G>C c.729G>C (p.Gly243=) c.271G>C c.2772G>C (p.Gly924=) c.2754G>C (p.Gly918=) c.2592G>C (p.Gly864=) c.2700G>C (p.Gly900=) c.2682G>C (p.Gly894=) c.2406G>C (p.Gly802=) n.2981G>C c.2574G>C (p.Gly858=) c.2388G>C (p.Gly796=) n.2984G>C c.2679G>C (p.Gly893=) c.2745G>C (p.Gly915=) c.2697G>C (p.Gly899=) c.2562G>C (p.Gly854=) | |
16 | g.28835614G= | CA2215806308 | ATXN2L | c.2751G= (p.Gly917=) c.726G= (p.Gly242=) n.3125G= c.2769G= (p.Gly923=) c.1815G= (n.1815G=) c.20G= c.729G= (p.Gly243=) c.271G= c.2772G= (p.Gly924=) c.2754G= (p.Gly918=) c.2592G= (p.Gly864=) c.2700G= (p.Gly900=) c.2682G= (p.Gly894=) c.2406G= (p.Gly802=) n.2981G= c.2574G= (p.Gly858=) c.2388G= (p.Gly796=) n.2984G= c.2679G= (p.Gly893=) c.2745G= (p.Gly915=) c.2697G= (p.Gly899=) c.2562G= (p.Gly854=) | |
16 | g.28835614G>T | CA494868547 | ATXN2L | c.2751G>T (p.Gly917=) c.726G>T (p.Gly242=) n.3125G>T c.2769G>T (p.Gly923=) c.1815G>T (n.1815G>T) c.20G>T c.729G>T (p.Gly243=) c.271G>T c.2772G>T (p.Gly924=) c.2754G>T (p.Gly918=) c.2592G>T (p.Gly864=) c.2700G>T (p.Gly900=) c.2682G>T (p.Gly894=) c.2406G>T (p.Gly802=) n.2981G>T c.2574G>T (p.Gly858=) c.2388G>T (p.Gly796=) n.2984G>T c.2679G>T (p.Gly893=) c.2745G>T (p.Gly915=) c.2697G>T (p.Gly899=) c.2562G>T (p.Gly854=) | |
16 | g.28835615G>A | CA395408192 | ATXN2L | c.2752G>A (p.Ala918Thr) c.727G>A (p.Ala243Thr) n.3126G>A c.2770G>A (p.Ala924Thr) c.1816G>A (n.1816G>A) c.21G>A c.730G>A (p.Ala244Thr) c.272G>A c.2773G>A (p.Ala925Thr) c.2755G>A (p.Ala919Thr) c.2593G>A (p.Ala865Thr) c.2701G>A (p.Ala901Thr) c.2683G>A (p.Ala895Thr) c.2407G>A (p.Ala803Thr) n.2982G>A c.2575G>A (p.Ala859Thr) c.2389G>A (p.Ala797Thr) n.2985G>A c.2680G>A (p.Ala894Thr) c.2746G>A (p.Ala916Thr) c.2698G>A (p.Ala900Thr) c.2563G>A (p.Ala855Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835615G>C | CA395408194 | ATXN2L | c.2752G>C (p.Ala918Pro) c.727G>C (p.Ala243Pro) n.3126G>C c.2770G>C (p.Ala924Pro) c.1816G>C (n.1816G>C) c.21G>C c.730G>C (p.Ala244Pro) c.272G>C c.2773G>C (p.Ala925Pro) c.2755G>C (p.Ala919Pro) c.2593G>C (p.Ala865Pro) c.2701G>C (p.Ala901Pro) c.2683G>C (p.Ala895Pro) c.2407G>C (p.Ala803Pro) n.2982G>C c.2575G>C (p.Ala859Pro) c.2389G>C (p.Ala797Pro) n.2985G>C c.2680G>C (p.Ala894Pro) c.2746G>C (p.Ala916Pro) c.2698G>C (p.Ala900Pro) c.2563G>C (p.Ala855Pro) | |
16 | g.28835615G= | CA2215806310 | ATXN2L | c.2752G= (p.Ala918=) c.727G= (p.Ala243=) n.3126G= c.2770G= (p.Ala924=) c.1816G= (n.1816G=) c.21G= c.730G= (p.Ala244=) c.272G= c.2773G= (p.Ala925=) c.2755G= (p.Ala919=) c.2593G= (p.Ala865=) c.2701G= (p.Ala901=) c.2683G= (p.Ala895=) c.2407G= (p.Ala803=) n.2982G= c.2575G= (p.Ala859=) c.2389G= (p.Ala797=) n.2985G= c.2680G= (p.Ala894=) c.2746G= (p.Ala916=) c.2698G= (p.Ala900=) c.2563G= (p.Ala855=) | |
16 | g.28835615G>T | CA7985086 | ATXN2L | c.2752G>T (p.Ala918Ser) c.727G>T (p.Ala243Ser) n.3126G>T c.2770G>T (p.Ala924Ser) c.1816G>T (n.1816G>T) c.21G>T c.730G>T (p.Ala244Ser) c.272G>T c.2773G>T (p.Ala925Ser) c.2755G>T (p.Ala919Ser) c.2593G>T (p.Ala865Ser) c.2701G>T (p.Ala901Ser) c.2683G>T (p.Ala895Ser) c.2407G>T (p.Ala803Ser) n.2982G>T c.2575G>T (p.Ala859Ser) c.2389G>T (p.Ala797Ser) n.2985G>T c.2680G>T (p.Ala894Ser) c.2746G>T (p.Ala916Ser) c.2698G>T (p.Ala900Ser) c.2563G>T (p.Ala855Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835616C>A | CA395408201 | ATXN2L | c.2753C>A (p.Ala918Asp) c.728C>A (p.Ala243Asp) n.3127C>A c.2771C>A (p.Ala924Asp) c.1817C>A (n.1817C>A) c.22C>A c.731C>A (p.Ala244Asp) c.273C>A c.2774C>A (p.Ala925Asp) c.2756C>A (p.Ala919Asp) c.2594C>A (p.Ala865Asp) c.2702C>A (p.Ala901Asp) c.2684C>A (p.Ala895Asp) c.2408C>A (p.Ala803Asp) n.2983C>A c.2576C>A (p.Ala859Asp) c.2390C>A (p.Ala797Asp) n.2986C>A c.2681C>A (p.Ala894Asp) c.2747C>A (p.Ala916Asp) c.2699C>A (p.Ala900Asp) c.2564C>A (p.Ala855Asp) | |
16 | g.28835616C>G | CA395408199 | ATXN2L | c.2753C>G (p.Ala918Gly) c.728C>G (p.Ala243Gly) n.3127C>G c.2771C>G (p.Ala924Gly) c.1817C>G (n.1817C>G) c.22C>G c.731C>G (p.Ala244Gly) c.273C>G c.2774C>G (p.Ala925Gly) c.2756C>G (p.Ala919Gly) c.2594C>G (p.Ala865Gly) c.2702C>G (p.Ala901Gly) c.2684C>G (p.Ala895Gly) c.2408C>G (p.Ala803Gly) n.2983C>G c.2576C>G (p.Ala859Gly) c.2390C>G (p.Ala797Gly) n.2986C>G c.2681C>G (p.Ala894Gly) c.2747C>G (p.Ala916Gly) c.2699C>G (p.Ala900Gly) c.2564C>G (p.Ala855Gly) | |
16 | g.28835616C>T | CA395408197 | ATXN2L | c.2753C>T (p.Ala918Val) c.728C>T (p.Ala243Val) n.3127C>T c.2771C>T (p.Ala924Val) c.1817C>T (n.1817C>T) c.22C>T c.731C>T (p.Ala244Val) c.273C>T c.2774C>T (p.Ala925Val) c.2756C>T (p.Ala919Val) c.2594C>T (p.Ala865Val) c.2702C>T (p.Ala901Val) c.2684C>T (p.Ala895Val) c.2408C>T (p.Ala803Val) n.2983C>T c.2576C>T (p.Ala859Val) c.2390C>T (p.Ala797Val) n.2986C>T c.2681C>T (p.Ala894Val) c.2747C>T (p.Ala916Val) c.2699C>T (p.Ala900Val) c.2564C>T (p.Ala855Val) | gnomAD v4 |
16 | g.28835617C>A | CA494868568 | ATXN2L | c.2754C>A (p.Ala918=) c.729C>A (p.Ala243=) n.3128C>A c.2772C>A (p.Ala924=) c.1818C>A (n.1818C>A) c.23C>A c.732C>A (p.Ala244=) c.274C>A c.2775C>A (p.Ala925=) c.2757C>A (p.Ala919=) c.2595C>A (p.Ala865=) c.2703C>A (p.Ala901=) c.2685C>A (p.Ala895=) c.2409C>A (p.Ala803=) n.2984C>A c.2577C>A (p.Ala859=) c.2391C>A (p.Ala797=) n.2987C>A c.2682C>A (p.Ala894=) c.2748C>A (p.Ala916=) c.2700C>A (p.Ala900=) c.2565C>A (p.Ala855=) | |
16 | g.28835617C>G | CA494868570 | ATXN2L | c.2754C>G (p.Ala918=) c.729C>G (p.Ala243=) n.3128C>G c.2772C>G (p.Ala924=) c.1818C>G (n.1818C>G) c.23C>G c.732C>G (p.Ala244=) c.274C>G c.2775C>G (p.Ala925=) c.2757C>G (p.Ala919=) c.2595C>G (p.Ala865=) c.2703C>G (p.Ala901=) c.2685C>G (p.Ala895=) c.2409C>G (p.Ala803=) n.2984C>G c.2577C>G (p.Ala859=) c.2391C>G (p.Ala797=) n.2987C>G c.2682C>G (p.Ala894=) c.2748C>G (p.Ala916=) c.2700C>G (p.Ala900=) c.2565C>G (p.Ala855=) | |
16 | g.28835617C>T | CA494868572 | ATXN2L | c.2754C>T (p.Ala918=) c.729C>T (p.Ala243=) n.3128C>T c.2772C>T (p.Ala924=) c.1818C>T (n.1818C>T) c.23C>T c.732C>T (p.Ala244=) c.274C>T c.2775C>T (p.Ala925=) c.2757C>T (p.Ala919=) c.2595C>T (p.Ala865=) c.2703C>T (p.Ala901=) c.2685C>T (p.Ala895=) c.2409C>T (p.Ala803=) n.2984C>T c.2577C>T (p.Ala859=) c.2391C>T (p.Ala797=) n.2987C>T c.2682C>T (p.Ala894=) c.2748C>T (p.Ala916=) c.2700C>T (p.Ala900=) c.2565C>T (p.Ala855=) | |
16 | g.28835618C>A | CA395408205 | ATXN2L | c.2755C>A (p.Leu919Met) c.730C>A (p.Leu244Met) n.3129C>A c.2773C>A (p.Leu925Met) c.1819C>A (n.1819C>A) c.24C>A c.733C>A (p.Leu245Met) c.275C>A c.2776C>A (p.Leu926Met) c.2758C>A (p.Leu920Met) c.2596C>A (p.Leu866Met) c.2704C>A (p.Leu902Met) c.2686C>A (p.Leu896Met) c.2410C>A (p.Leu804Met) n.2985C>A c.2578C>A (p.Leu860Met) c.2392C>A (p.Leu798Met) n.2988C>A c.2683C>A (p.Leu895Met) c.2749C>A (p.Leu917Met) c.2701C>A (p.Leu901Met) c.2566C>A (p.Leu856Met) | |
16 | g.28835618C= | CA2215806313 | ATXN2L | c.2755C= (p.Leu919=) c.730C= (p.Leu244=) n.3129C= c.2773C= (p.Leu925=) c.1819C= (n.1819C=) c.24C= c.733C= (p.Leu245=) c.275C= c.2776C= (p.Leu926=) c.2758C= (p.Leu920=) c.2596C= (p.Leu866=) c.2704C= (p.Leu902=) c.2686C= (p.Leu896=) c.2410C= (p.Leu804=) n.2985C= c.2578C= (p.Leu860=) c.2392C= (p.Leu798=) n.2988C= c.2683C= (p.Leu895=) c.2749C= (p.Leu917=) c.2701C= (p.Leu901=) c.2566C= (p.Leu856=) | |
16 | g.28835618C>G | CA395408203 | ATXN2L | c.2755C>G (p.Leu919Val) c.730C>G (p.Leu244Val) n.3129C>G c.2773C>G (p.Leu925Val) c.1819C>G (n.1819C>G) c.24C>G c.733C>G (p.Leu245Val) c.275C>G c.2776C>G (p.Leu926Val) c.2758C>G (p.Leu920Val) c.2596C>G (p.Leu866Val) c.2704C>G (p.Leu902Val) c.2686C>G (p.Leu896Val) c.2410C>G (p.Leu804Val) n.2985C>G c.2578C>G (p.Leu860Val) c.2392C>G (p.Leu798Val) n.2988C>G c.2683C>G (p.Leu895Val) c.2749C>G (p.Leu917Val) c.2701C>G (p.Leu901Val) c.2566C>G (p.Leu856Val) | gnomAD v4 |
16 | g.28835618C>T | CA494868581 | ATXN2L | c.2755C>T (p.Leu919=) c.730C>T (p.Leu244=) n.3129C>T c.2773C>T (p.Leu925=) c.1819C>T (n.1819C>T) c.24C>T c.733C>T (p.Leu245=) c.275C>T c.2776C>T (p.Leu926=) c.2758C>T (p.Leu920=) c.2596C>T (p.Leu866=) c.2704C>T (p.Leu902=) c.2686C>T (p.Leu896=) c.2410C>T (p.Leu804=) n.2985C>T c.2578C>T (p.Leu860=) c.2392C>T (p.Leu798=) n.2988C>T c.2683C>T (p.Leu895=) c.2749C>T (p.Leu917=) c.2701C>T (p.Leu901=) c.2566C>T (p.Leu856=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835619T>A | CA395408207 | ATXN2L | c.2756T>A (p.Leu919Gln) c.731T>A (p.Leu244Gln) n.3130T>A c.2774T>A (p.Leu925Gln) c.1820T>A (n.1820T>A) c.25T>A c.734T>A (p.Leu245Gln) c.276T>A c.2777T>A (p.Leu926Gln) c.2759T>A (p.Leu920Gln) c.2597T>A (p.Leu866Gln) c.2705T>A (p.Leu902Gln) c.2687T>A (p.Leu896Gln) c.2411T>A (p.Leu804Gln) n.2986T>A c.2579T>A (p.Leu860Gln) c.2393T>A (p.Leu798Gln) n.2989T>A c.2684T>A (p.Leu895Gln) c.2750T>A (p.Leu917Gln) c.2702T>A (p.Leu901Gln) c.2567T>A (p.Leu856Gln) | |
16 | g.28835619T>C | CA395408209 | ATXN2L | c.2756T>C (p.Leu919Pro) c.731T>C (p.Leu244Pro) n.3130T>C c.2774T>C (p.Leu925Pro) c.1820T>C (n.1820T>C) c.25T>C c.734T>C (p.Leu245Pro) c.276T>C c.2777T>C (p.Leu926Pro) c.2759T>C (p.Leu920Pro) c.2597T>C (p.Leu866Pro) c.2705T>C (p.Leu902Pro) c.2687T>C (p.Leu896Pro) c.2411T>C (p.Leu804Pro) n.2986T>C c.2579T>C (p.Leu860Pro) c.2393T>C (p.Leu798Pro) n.2989T>C c.2684T>C (p.Leu895Pro) c.2750T>C (p.Leu917Pro) c.2702T>C (p.Leu901Pro) c.2567T>C (p.Leu856Pro) | |
16 | g.28835619T>G | CA395408210 | ATXN2L | c.2756T>G (p.Leu919Arg) c.731T>G (p.Leu244Arg) n.3130T>G c.2774T>G (p.Leu925Arg) c.1820T>G (n.1820T>G) c.25T>G c.734T>G (p.Leu245Arg) c.276T>G c.2777T>G (p.Leu926Arg) c.2759T>G (p.Leu920Arg) c.2597T>G (p.Leu866Arg) c.2705T>G (p.Leu902Arg) c.2687T>G (p.Leu896Arg) c.2411T>G (p.Leu804Arg) n.2986T>G c.2579T>G (p.Leu860Arg) c.2393T>G (p.Leu798Arg) n.2989T>G c.2684T>G (p.Leu895Arg) c.2750T>G (p.Leu917Arg) c.2702T>G (p.Leu901Arg) c.2567T>G (p.Leu856Arg) | |
16 | g.28835620G>A | CA494868586 | ATXN2L | c.2757G>A (p.Leu919=) c.732G>A (p.Leu244=) n.3131G>A c.2775G>A (p.Leu925=) c.1821G>A (n.1821G>A) c.26G>A c.735G>A (p.Leu245=) c.277G>A c.2778G>A (p.Leu926=) c.2760G>A (p.Leu920=) c.2598G>A (p.Leu866=) c.2706G>A (p.Leu902=) c.2688G>A (p.Leu896=) c.2412G>A (p.Leu804=) n.2987G>A c.2580G>A (p.Leu860=) c.2394G>A (p.Leu798=) n.2990G>A c.2685G>A (p.Leu895=) c.2751G>A (p.Leu917=) c.2703G>A (p.Leu901=) c.2568G>A (p.Leu856=) | |
16 | g.28835620G>C | CA494868587 | ATXN2L | c.2757G>C (p.Leu919=) c.732G>C (p.Leu244=) n.3131G>C c.2775G>C (p.Leu925=) c.1821G>C (n.1821G>C) c.26G>C c.735G>C (p.Leu245=) c.277G>C c.2778G>C (p.Leu926=) c.2760G>C (p.Leu920=) c.2598G>C (p.Leu866=) c.2706G>C (p.Leu902=) c.2688G>C (p.Leu896=) c.2412G>C (p.Leu804=) n.2987G>C c.2580G>C (p.Leu860=) c.2394G>C (p.Leu798=) n.2990G>C c.2685G>C (p.Leu895=) c.2751G>C (p.Leu917=) c.2703G>C (p.Leu901=) c.2568G>C (p.Leu856=) | |
16 | g.28835620G>T | CA494868589 | ATXN2L | c.2757G>T (p.Leu919=) c.732G>T (p.Leu244=) n.3131G>T c.2775G>T (p.Leu925=) c.1821G>T (n.1821G>T) c.26G>T c.735G>T (p.Leu245=) c.277G>T c.2778G>T (p.Leu926=) c.2760G>T (p.Leu920=) c.2598G>T (p.Leu866=) c.2706G>T (p.Leu902=) c.2688G>T (p.Leu896=) c.2412G>T (p.Leu804=) n.2987G>T c.2580G>T (p.Leu860=) c.2394G>T (p.Leu798=) n.2990G>T c.2685G>T (p.Leu895=) c.2751G>T (p.Leu917=) c.2703G>T (p.Leu901=) c.2568G>T (p.Leu856=) | |
16 | g.28835621A>C | CA395408211 | ATXN2L | c.2758A>C (p.Thr920Pro) c.733A>C (p.Thr245Pro) n.3132A>C c.2776A>C (p.Thr926Pro) c.1822A>C (n.1822A>C) c.27A>C c.736A>C (p.Thr246Pro) c.278A>C c.2779A>C (p.Thr927Pro) c.2761A>C (p.Thr921Pro) c.2599A>C (p.Thr867Pro) c.2707A>C (p.Thr903Pro) c.2689A>C (p.Thr897Pro) c.2413A>C (p.Thr805Pro) n.2988A>C c.2581A>C (p.Thr861Pro) c.2395A>C (p.Thr799Pro) n.2991A>C c.2686A>C (p.Thr896Pro) c.2752A>C (p.Thr918Pro) c.2704A>C (p.Thr902Pro) c.2569A>C (p.Thr857Pro) | |
16 | g.28835621A>G | CA395408213 | ATXN2L | c.2758A>G (p.Thr920Ala) c.733A>G (p.Thr245Ala) n.3132A>G c.2776A>G (p.Thr926Ala) c.1822A>G (n.1822A>G) c.27A>G c.736A>G (p.Thr246Ala) c.278A>G c.2779A>G (p.Thr927Ala) c.2761A>G (p.Thr921Ala) c.2599A>G (p.Thr867Ala) c.2707A>G (p.Thr903Ala) c.2689A>G (p.Thr897Ala) c.2413A>G (p.Thr805Ala) n.2988A>G c.2581A>G (p.Thr861Ala) c.2395A>G (p.Thr799Ala) n.2991A>G c.2686A>G (p.Thr896Ala) c.2752A>G (p.Thr918Ala) c.2704A>G (p.Thr902Ala) c.2569A>G (p.Thr857Ala) | |
16 | g.28835621A>T | CA395408215 | ATXN2L | c.2758A>T (p.Thr920Ser) c.733A>T (p.Thr245Ser) n.3132A>T c.2776A>T (p.Thr926Ser) c.1822A>T (n.1822A>T) c.27A>T c.736A>T (p.Thr246Ser) c.278A>T c.2779A>T (p.Thr927Ser) c.2761A>T (p.Thr921Ser) c.2599A>T (p.Thr867Ser) c.2707A>T (p.Thr903Ser) c.2689A>T (p.Thr897Ser) c.2413A>T (p.Thr805Ser) n.2988A>T c.2581A>T (p.Thr861Ser) c.2395A>T (p.Thr799Ser) n.2991A>T c.2686A>T (p.Thr896Ser) c.2752A>T (p.Thr918Ser) c.2704A>T (p.Thr902Ser) c.2569A>T (p.Thr857Ser) | |
16 | g.28835622C>A | CA395408216 | ATXN2L | c.2759C>A (p.Thr920Lys) c.734C>A (p.Thr245Lys) n.3133C>A c.2777C>A (p.Thr926Lys) c.1823C>A (n.1823C>A) c.28C>A c.737C>A (p.Thr246Lys) c.279C>A c.2780C>A (p.Thr927Lys) c.2762C>A (p.Thr921Lys) c.2600C>A (p.Thr867Lys) c.2708C>A (p.Thr903Lys) c.2690C>A (p.Thr897Lys) c.2414C>A (p.Thr805Lys) n.2989C>A c.2582C>A (p.Thr861Lys) c.2396C>A (p.Thr799Lys) n.2992C>A c.2687C>A (p.Thr896Lys) c.2753C>A (p.Thr918Lys) c.2705C>A (p.Thr902Lys) c.2570C>A (p.Thr857Lys) | |
16 | g.28835622C= | CA2215806315 | ATXN2L | c.2759C= (p.Thr920=) c.734C= (p.Thr245=) n.3133C= c.2777C= (p.Thr926=) c.1823C= (n.1823C=) c.28C= c.737C= (p.Thr246=) c.279C= c.2780C= (p.Thr927=) c.2762C= (p.Thr921=) c.2600C= (p.Thr867=) c.2708C= (p.Thr903=) c.2690C= (p.Thr897=) c.2414C= (p.Thr805=) n.2989C= c.2582C= (p.Thr861=) c.2396C= (p.Thr799=) n.2992C= c.2687C= (p.Thr896=) c.2753C= (p.Thr918=) c.2705C= (p.Thr902=) c.2570C= (p.Thr857=) | |
16 | g.28835622C>G | CA395408217 | ATXN2L | c.2759C>G (p.Thr920Arg) c.734C>G (p.Thr245Arg) n.3133C>G c.2777C>G (p.Thr926Arg) c.1823C>G (n.1823C>G) c.28C>G c.737C>G (p.Thr246Arg) c.279C>G c.2780C>G (p.Thr927Arg) c.2762C>G (p.Thr921Arg) c.2600C>G (p.Thr867Arg) c.2708C>G (p.Thr903Arg) c.2690C>G (p.Thr897Arg) c.2414C>G (p.Thr805Arg) n.2989C>G c.2582C>G (p.Thr861Arg) c.2396C>G (p.Thr799Arg) n.2992C>G c.2687C>G (p.Thr896Arg) c.2753C>G (p.Thr918Arg) c.2705C>G (p.Thr902Arg) c.2570C>G (p.Thr857Arg) | |
16 | g.28835622C>T | CA7985087 | ATXN2L | c.2759C>T (p.Thr920Ile) c.734C>T (p.Thr245Ile) n.3133C>T c.2777C>T (p.Thr926Ile) c.1823C>T (n.1823C>T) c.28C>T c.737C>T (p.Thr246Ile) c.279C>T c.2780C>T (p.Thr927Ile) c.2762C>T (p.Thr921Ile) c.2600C>T (p.Thr867Ile) c.2708C>T (p.Thr903Ile) c.2690C>T (p.Thr897Ile) c.2414C>T (p.Thr805Ile) n.2989C>T c.2582C>T (p.Thr861Ile) c.2396C>T (p.Thr799Ile) n.2992C>T c.2687C>T (p.Thr896Ile) c.2753C>T (p.Thr918Ile) c.2705C>T (p.Thr902Ile) c.2570C>T (p.Thr857Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835623A>C | CA494868606 | ATXN2L | c.2760A>C (p.Thr920=) c.735A>C (p.Thr245=) n.3134A>C c.2778A>C (p.Thr926=) c.1824A>C (n.1824A>C) c.29A>C c.738A>C (p.Thr246=) c.280A>C c.2781A>C (p.Thr927=) c.2763A>C (p.Thr921=) c.2601A>C (p.Thr867=) c.2709A>C (p.Thr903=) c.2691A>C (p.Thr897=) c.2415A>C (p.Thr805=) n.2990A>C c.2583A>C (p.Thr861=) c.2397A>C (p.Thr799=) n.2993A>C c.2688A>C (p.Thr896=) c.2754A>C (p.Thr918=) c.2706A>C (p.Thr902=) c.2571A>C (p.Thr857=) | |
16 | g.28835623A>G | CA494868607 | ATXN2L | c.2760A>G (p.Thr920=) c.735A>G (p.Thr245=) n.3134A>G c.2778A>G (p.Thr926=) c.1824A>G (n.1824A>G) c.29A>G c.738A>G (p.Thr246=) c.280A>G c.2781A>G (p.Thr927=) c.2763A>G (p.Thr921=) c.2601A>G (p.Thr867=) c.2709A>G (p.Thr903=) c.2691A>G (p.Thr897=) c.2415A>G (p.Thr805=) n.2990A>G c.2583A>G (p.Thr861=) c.2397A>G (p.Thr799=) n.2993A>G c.2688A>G (p.Thr896=) c.2754A>G (p.Thr918=) c.2706A>G (p.Thr902=) c.2571A>G (p.Thr857=) | gnomAD v4 |
16 | g.28835623A>T | CA494868608 | ATXN2L | c.2760A>T (p.Thr920=) c.735A>T (p.Thr245=) n.3134A>T c.2778A>T (p.Thr926=) c.1824A>T (n.1824A>T) c.29A>T c.738A>T (p.Thr246=) c.280A>T c.2781A>T (p.Thr927=) c.2763A>T (p.Thr921=) c.2601A>T (p.Thr867=) c.2709A>T (p.Thr903=) c.2691A>T (p.Thr897=) c.2415A>T (p.Thr805=) n.2990A>T c.2583A>T (p.Thr861=) c.2397A>T (p.Thr799=) n.2993A>T c.2688A>T (p.Thr896=) c.2754A>T (p.Thr918=) c.2706A>T (p.Thr902=) c.2571A>T (p.Thr857=) | |
16 | g.28835624G>A | CA279230752 | ATXN2L | c.2761G>A (p.Gly921Ser) c.736G>A (p.Gly246Ser) n.3135G>A c.2779G>A (p.Gly927Ser) c.1825G>A (n.1825G>A) c.30G>A c.739G>A (p.Gly247Ser) c.281G>A c.2782G>A (p.Gly928Ser) c.2764G>A (p.Gly922Ser) c.2602G>A (p.Gly868Ser) c.2710G>A (p.Gly904Ser) c.2692G>A (p.Gly898Ser) c.2416G>A (p.Gly806Ser) n.2991G>A c.2584G>A (p.Gly862Ser) c.2398G>A (p.Gly800Ser) n.2994G>A c.2689G>A (p.Gly897Ser) c.2755G>A (p.Gly919Ser) c.2707G>A (p.Gly903Ser) c.2572G>A (p.Gly858Ser) | dbSNP gnomAD v4 |
16 | g.28835624G>C | CA395408221 | ATXN2L | c.2761G>C (p.Gly921Arg) c.736G>C (p.Gly246Arg) n.3135G>C c.2779G>C (p.Gly927Arg) c.1825G>C (n.1825G>C) c.30G>C c.739G>C (p.Gly247Arg) c.281G>C c.2782G>C (p.Gly928Arg) c.2764G>C (p.Gly922Arg) c.2602G>C (p.Gly868Arg) c.2710G>C (p.Gly904Arg) c.2692G>C (p.Gly898Arg) c.2416G>C (p.Gly806Arg) n.2991G>C c.2584G>C (p.Gly862Arg) c.2398G>C (p.Gly800Arg) n.2994G>C c.2689G>C (p.Gly897Arg) c.2755G>C (p.Gly919Arg) c.2707G>C (p.Gly903Arg) c.2572G>C (p.Gly858Arg) | gnomAD v4 |
16 | g.28835624G= | CA2215806318 | ATXN2L | c.2761G= (p.Gly921=) c.736G= (p.Gly246=) n.3135G= c.2779G= (p.Gly927=) c.1825G= (n.1825G=) c.30G= c.739G= (p.Gly247=) c.281G= c.2782G= (p.Gly928=) c.2764G= (p.Gly922=) c.2602G= (p.Gly868=) c.2710G= (p.Gly904=) c.2692G= (p.Gly898=) c.2416G= (p.Gly806=) n.2991G= c.2584G= (p.Gly862=) c.2398G= (p.Gly800=) n.2994G= c.2689G= (p.Gly897=) c.2755G= (p.Gly919=) c.2707G= (p.Gly903=) c.2572G= (p.Gly858=) | |
16 | g.28835624G>T | CA395408223 | ATXN2L | c.2761G>T (p.Gly921Cys) c.736G>T (p.Gly246Cys) n.3135G>T c.2779G>T (p.Gly927Cys) c.1825G>T (n.1825G>T) c.30G>T c.739G>T (p.Gly247Cys) c.281G>T c.2782G>T (p.Gly928Cys) c.2764G>T (p.Gly922Cys) c.2602G>T (p.Gly868Cys) c.2710G>T (p.Gly904Cys) c.2692G>T (p.Gly898Cys) c.2416G>T (p.Gly806Cys) n.2991G>T c.2584G>T (p.Gly862Cys) c.2398G>T (p.Gly800Cys) n.2994G>T c.2689G>T (p.Gly897Cys) c.2755G>T (p.Gly919Cys) c.2707G>T (p.Gly903Cys) c.2572G>T (p.Gly858Cys) | |
16 | g.28835625G>A | CA7985088 | ATXN2L | c.2762G>A (p.Gly921Asp) c.737G>A (p.Gly246Asp) n.3136G>A c.2780G>A (p.Gly927Asp) c.1826G>A (n.1826G>A) c.31G>A c.740G>A (p.Gly247Asp) c.282G>A c.2783G>A (p.Gly928Asp) c.2765G>A (p.Gly922Asp) c.2603G>A (p.Gly868Asp) c.2711G>A (p.Gly904Asp) c.2693G>A (p.Gly898Asp) c.2417G>A (p.Gly806Asp) n.2992G>A c.2585G>A (p.Gly862Asp) c.2399G>A (p.Gly800Asp) n.2995G>A c.2690G>A (p.Gly897Asp) c.2756G>A (p.Gly919Asp) c.2708G>A (p.Gly903Asp) c.2573G>A (p.Gly858Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835625G>C | CA395408227 | ATXN2L | c.2762G>C (p.Gly921Ala) c.737G>C (p.Gly246Ala) n.3136G>C c.2780G>C (p.Gly927Ala) c.1826G>C (n.1826G>C) c.31G>C c.740G>C (p.Gly247Ala) c.282G>C c.2783G>C (p.Gly928Ala) c.2765G>C (p.Gly922Ala) c.2603G>C (p.Gly868Ala) c.2711G>C (p.Gly904Ala) c.2693G>C (p.Gly898Ala) c.2417G>C (p.Gly806Ala) n.2992G>C c.2585G>C (p.Gly862Ala) c.2399G>C (p.Gly800Ala) n.2995G>C c.2690G>C (p.Gly897Ala) c.2756G>C (p.Gly919Ala) c.2708G>C (p.Gly903Ala) c.2573G>C (p.Gly858Ala) | gnomAD v4 |
16 | g.28835625G= | CA2215806320 | ATXN2L | c.2762G= (p.Gly921=) c.737G= (p.Gly246=) n.3136G= c.2780G= (p.Gly927=) c.1826G= (n.1826G=) c.31G= c.740G= (p.Gly247=) c.282G= c.2783G= (p.Gly928=) c.2765G= (p.Gly922=) c.2603G= (p.Gly868=) c.2711G= (p.Gly904=) c.2693G= (p.Gly898=) c.2417G= (p.Gly806=) n.2992G= c.2585G= (p.Gly862=) c.2399G= (p.Gly800=) n.2995G= c.2690G= (p.Gly897=) c.2756G= (p.Gly919=) c.2708G= (p.Gly903=) c.2573G= (p.Gly858=) | |
16 | g.28835625G>T | CA395408226 | ATXN2L | c.2762G>T (p.Gly921Val) c.737G>T (p.Gly246Val) n.3136G>T c.2780G>T (p.Gly927Val) c.1826G>T (n.1826G>T) c.31G>T c.740G>T (p.Gly247Val) c.282G>T c.2783G>T (p.Gly928Val) c.2765G>T (p.Gly922Val) c.2603G>T (p.Gly868Val) c.2711G>T (p.Gly904Val) c.2693G>T (p.Gly898Val) c.2417G>T (p.Gly806Val) n.2992G>T c.2585G>T (p.Gly862Val) c.2399G>T (p.Gly800Val) n.2995G>T c.2690G>T (p.Gly897Val) c.2756G>T (p.Gly919Val) c.2708G>T (p.Gly903Val) c.2573G>T (p.Gly858Val) | |
16 | g.28835626C>A | CA494868638 | ATXN2L | c.2763C>A (p.Gly921=) c.738C>A (p.Gly246=) n.3137C>A c.2781C>A (p.Gly927=) c.1827C>A (n.1827C>A) c.32C>A c.741C>A (p.Gly247=) c.283C>A c.2784C>A (p.Gly928=) c.2766C>A (p.Gly922=) c.2604C>A (p.Gly868=) c.2712C>A (p.Gly904=) c.2694C>A (p.Gly898=) c.2418C>A (p.Gly806=) n.2993C>A c.2586C>A (p.Gly862=) c.2400C>A (p.Gly800=) n.2996C>A c.2691C>A (p.Gly897=) c.2757C>A (p.Gly919=) c.2709C>A (p.Gly903=) c.2574C>A (p.Gly858=) | |
16 | g.28835626C>G | CA494868636 | ATXN2L | c.2763C>G (p.Gly921=) c.738C>G (p.Gly246=) n.3137C>G c.2781C>G (p.Gly927=) c.1827C>G (n.1827C>G) c.32C>G c.741C>G (p.Gly247=) c.283C>G c.2784C>G (p.Gly928=) c.2766C>G (p.Gly922=) c.2604C>G (p.Gly868=) c.2712C>G (p.Gly904=) c.2694C>G (p.Gly898=) c.2418C>G (p.Gly806=) n.2993C>G c.2586C>G (p.Gly862=) c.2400C>G (p.Gly800=) n.2996C>G c.2691C>G (p.Gly897=) c.2757C>G (p.Gly919=) c.2709C>G (p.Gly903=) c.2574C>G (p.Gly858=) | |
16 | g.28835626C>T | CA494868632 | ATXN2L | c.2763C>T (p.Gly921=) c.738C>T (p.Gly246=) n.3137C>T c.2781C>T (p.Gly927=) c.1827C>T (n.1827C>T) c.32C>T c.741C>T (p.Gly247=) c.283C>T c.2784C>T (p.Gly928=) c.2766C>T (p.Gly922=) c.2604C>T (p.Gly868=) c.2712C>T (p.Gly904=) c.2694C>T (p.Gly898=) c.2418C>T (p.Gly806=) n.2993C>T c.2586C>T (p.Gly862=) c.2400C>T (p.Gly800=) n.2996C>T c.2691C>T (p.Gly897=) c.2757C>T (p.Gly919=) c.2709C>T (p.Gly903=) c.2574C>T (p.Gly858=) | |
16 | g.28835627A>C | CA395408228 | ATXN2L | c.2764A>C (p.Thr922Pro) c.739A>C (p.Thr247Pro) n.3138A>C c.2782A>C (p.Thr928Pro) c.1828A>C (n.1828A>C) c.33A>C c.742A>C (p.Thr248Pro) c.284A>C c.2785A>C (p.Thr929Pro) c.2767A>C (p.Thr923Pro) c.2605A>C (p.Thr869Pro) c.2713A>C (p.Thr905Pro) c.2695A>C (p.Thr899Pro) c.2419A>C (p.Thr807Pro) n.2994A>C c.2587A>C (p.Thr863Pro) c.2401A>C (p.Thr801Pro) n.2997A>C c.2692A>C (p.Thr898Pro) c.2758A>C (p.Thr920Pro) c.2710A>C (p.Thr904Pro) c.2575A>C (p.Thr859Pro) | |
16 | g.28835627A>G | CA395408229 | ATXN2L | c.2764A>G (p.Thr922Ala) c.739A>G (p.Thr247Ala) n.3138A>G c.2782A>G (p.Thr928Ala) c.1828A>G (n.1828A>G) c.33A>G c.742A>G (p.Thr248Ala) c.284A>G c.2785A>G (p.Thr929Ala) c.2767A>G (p.Thr923Ala) c.2605A>G (p.Thr869Ala) c.2713A>G (p.Thr905Ala) c.2695A>G (p.Thr899Ala) c.2419A>G (p.Thr807Ala) n.2994A>G c.2587A>G (p.Thr863Ala) c.2401A>G (p.Thr801Ala) n.2997A>G c.2692A>G (p.Thr898Ala) c.2758A>G (p.Thr920Ala) c.2710A>G (p.Thr904Ala) c.2575A>G (p.Thr859Ala) | |
16 | g.28835627A>T | CA395408230 | ATXN2L | c.2764A>T (p.Thr922Ser) c.739A>T (p.Thr247Ser) n.3138A>T c.2782A>T (p.Thr928Ser) c.1828A>T (n.1828A>T) c.33A>T c.742A>T (p.Thr248Ser) c.284A>T c.2785A>T (p.Thr929Ser) c.2767A>T (p.Thr923Ser) c.2605A>T (p.Thr869Ser) c.2713A>T (p.Thr905Ser) c.2695A>T (p.Thr899Ser) c.2419A>T (p.Thr807Ser) n.2994A>T c.2587A>T (p.Thr863Ser) c.2401A>T (p.Thr801Ser) n.2997A>T c.2692A>T (p.Thr898Ser) c.2758A>T (p.Thr920Ser) c.2710A>T (p.Thr904Ser) c.2575A>T (p.Thr859Ser) | |
16 | g.28835627_28835630delinsACGC | CA2215806323 | ATXN2L | c.2764_2767delinsACGC (p.Thr922=) c.739_742delinsACGC (p.Thr247=) n.3138_3141delinsACGC c.2782_2785delinsACGC (p.Thr928=) c.1828_1831delinsACGC (n.1828_1831delinsACGC) c.33_36delinsACGC c.742_745delinsACGC (p.Thr248=) c.284_287delinsACGC c.2785_2788delinsACGC (p.Thr929=) c.2767_2770delinsACGC (p.Thr923=) c.2605_2608delinsACGC (p.Thr869=) c.2713_2716delinsACGC (p.Thr905=) c.2695_2698delinsACGC (p.Thr899=) c.2419_2422delinsACGC (p.Thr807=) n.2994_2997delinsACGC c.2587_2590delinsACGC (p.Thr863=) c.2401_2404delinsACGC (p.Thr801=) n.2997_3000delinsACGC c.2692_2695delinsACGC (p.Thr898=) c.2758_2761delinsACGC (p.Thr920=) c.2710_2713delinsACGC (p.Thr904=) c.2575_2578delinsACGC (p.Thr859=) | |
16 | g.28835628C>A | CA395408231 | ATXN2L | c.2765C>A (p.Thr922Lys) c.740C>A (p.Thr247Lys) n.3139C>A c.2783C>A (p.Thr928Lys) c.1829C>A (n.1829C>A) c.34C>A c.743C>A (p.Thr248Lys) c.285C>A c.2786C>A (p.Thr929Lys) c.2768C>A (p.Thr923Lys) c.2606C>A (p.Thr869Lys) c.2714C>A (p.Thr905Lys) c.2696C>A (p.Thr899Lys) c.2420C>A (p.Thr807Lys) n.2995C>A c.2588C>A (p.Thr863Lys) c.2402C>A (p.Thr801Lys) n.2998C>A c.2693C>A (p.Thr898Lys) c.2759C>A (p.Thr920Lys) c.2711C>A (p.Thr904Lys) c.2576C>A (p.Thr859Lys) | gnomAD v4 |
16 | g.28835628C= | CA2215806327 | ATXN2L | c.2765C= (p.Thr922=) c.740C= (p.Thr247=) n.3139C= c.2783C= (p.Thr928=) c.1829C= (n.1829C=) c.34C= c.743C= (p.Thr248=) c.285C= c.2786C= (p.Thr929=) c.2768C= (p.Thr923=) c.2606C= (p.Thr869=) c.2714C= (p.Thr905=) c.2696C= (p.Thr899=) c.2420C= (p.Thr807=) n.2995C= c.2588C= (p.Thr863=) c.2402C= (p.Thr801=) n.2998C= c.2693C= (p.Thr898=) c.2759C= (p.Thr920=) c.2711C= (p.Thr904=) c.2576C= (p.Thr859=) | |
16 | g.28835628C>G | CA395408232 | ATXN2L | c.2765C>G (p.Thr922Arg) c.740C>G (p.Thr247Arg) n.3139C>G c.2783C>G (p.Thr928Arg) c.1829C>G (n.1829C>G) c.34C>G c.743C>G (p.Thr248Arg) c.285C>G c.2786C>G (p.Thr929Arg) c.2768C>G (p.Thr923Arg) c.2606C>G (p.Thr869Arg) c.2714C>G (p.Thr905Arg) c.2696C>G (p.Thr899Arg) c.2420C>G (p.Thr807Arg) n.2995C>G c.2588C>G (p.Thr863Arg) c.2402C>G (p.Thr801Arg) n.2998C>G c.2693C>G (p.Thr898Arg) c.2759C>G (p.Thr920Arg) c.2711C>G (p.Thr904Arg) c.2576C>G (p.Thr859Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835628C>T | CA279230754 | ATXN2L | c.2765C>T (p.Thr922Met) c.740C>T (p.Thr247Met) n.3139C>T c.2783C>T (p.Thr928Met) c.1829C>T (n.1829C>T) c.34C>T c.743C>T (p.Thr248Met) c.285C>T c.2786C>T (p.Thr929Met) c.2768C>T (p.Thr923Met) c.2606C>T (p.Thr869Met) c.2714C>T (p.Thr905Met) c.2696C>T (p.Thr899Met) c.2420C>T (p.Thr807Met) n.2995C>T c.2588C>T (p.Thr863Met) c.2402C>T (p.Thr801Met) n.2998C>T c.2693C>T (p.Thr898Met) c.2759C>T (p.Thr920Met) c.2711C>T (p.Thr904Met) c.2576C>T (p.Thr859Met) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835632_28835634del | CA719715198 | ATXN2L | c.2769_2771del (p.Pro924del) c.744_746del (p.Pro249del) n.3143_3145del c.2787_2789del (p.Pro930del) c.1833_1835del (n.1833_1835del) c.38_40del c.747_749del (p.Pro250del) c.289_291del c.2790_2792del (p.Pro931del) c.2772_2774del (p.Pro925del) c.2610_2612del (p.Pro871del) c.2718_2720del (p.Pro907del) c.2700_2702del (p.Pro901del) c.2424_2426del (p.Pro809del) n.2999_3001del c.2592_2594del (p.Pro865del) c.2406_2408del (p.Pro803del) n.3002_3004del c.2697_2699del (p.Pro900del) c.2763_2765del (p.Pro922del) c.2715_2717del (p.Pro906del) c.2580_2582del (p.Pro861del) | dbSNP |
16 | g.28835629G>A | CA7985089 | ATXN2L | c.2766G>A (p.Thr922=) c.741G>A (p.Thr247=) n.3140G>A c.2784G>A (p.Thr928=) c.1830G>A (n.1830G>A) c.35G>A c.744G>A (p.Thr248=) c.286G>A c.2787G>A (p.Thr929=) c.2769G>A (p.Thr923=) c.2607G>A (p.Thr869=) c.2715G>A (p.Thr905=) c.2697G>A (p.Thr899=) c.2421G>A (p.Thr807=) n.2996G>A c.2589G>A (p.Thr863=) c.2403G>A (p.Thr801=) n.2999G>A c.2694G>A (p.Thr898=) c.2760G>A (p.Thr920=) c.2712G>A (p.Thr904=) c.2577G>A (p.Thr859=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28835629G>C | CA494868652 | ATXN2L | c.2766G>C (p.Thr922=) c.741G>C (p.Thr247=) n.3140G>C c.2784G>C (p.Thr928=) c.1830G>C (n.1830G>C) c.35G>C c.744G>C (p.Thr248=) c.286G>C c.2787G>C (p.Thr929=) c.2769G>C (p.Thr923=) c.2607G>C (p.Thr869=) c.2715G>C (p.Thr905=) c.2697G>C (p.Thr899=) c.2421G>C (p.Thr807=) n.2996G>C c.2589G>C (p.Thr863=) c.2403G>C (p.Thr801=) n.2999G>C c.2694G>C (p.Thr898=) c.2760G>C (p.Thr920=) c.2712G>C (p.Thr904=) c.2577G>C (p.Thr859=) | |
16 | g.28835629G= | CA2215806335 | ATXN2L | c.2766G= (p.Thr922=) c.741G= (p.Thr247=) n.3140G= c.2784G= (p.Thr928=) c.1830G= (n.1830G=) c.35G= c.744G= (p.Thr248=) c.286G= c.2787G= (p.Thr929=) c.2769G= (p.Thr923=) c.2607G= (p.Thr869=) c.2715G= (p.Thr905=) c.2697G= (p.Thr899=) c.2421G= (p.Thr807=) n.2996G= c.2589G= (p.Thr863=) c.2403G= (p.Thr801=) n.2999G= c.2694G= (p.Thr898=) c.2760G= (p.Thr920=) c.2712G= (p.Thr904=) c.2577G= (p.Thr859=) | |
16 | g.28835629G>T | CA494868651 | ATXN2L | c.2766G>T (p.Thr922=) c.741G>T (p.Thr247=) n.3140G>T c.2784G>T (p.Thr928=) c.1830G>T (n.1830G>T) c.35G>T c.744G>T (p.Thr248=) c.286G>T c.2787G>T (p.Thr929=) c.2769G>T (p.Thr923=) c.2607G>T (p.Thr869=) c.2715G>T (p.Thr905=) c.2697G>T (p.Thr899=) c.2421G>T (p.Thr807=) n.2996G>T c.2589G>T (p.Thr863=) c.2403G>T (p.Thr801=) n.2999G>T c.2694G>T (p.Thr898=) c.2760G>T (p.Thr920=) c.2712G>T (p.Thr904=) c.2577G>T (p.Thr859=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835630C>A | CA395408233 | ATXN2L | c.2767C>A (p.Pro923Thr) c.742C>A (p.Pro248Thr) n.3141C>A c.2785C>A (p.Pro929Thr) c.1831C>A (n.1831C>A) c.36C>A c.745C>A (p.Pro249Thr) c.287C>A c.2788C>A (p.Pro930Thr) c.2770C>A (p.Pro924Thr) c.2608C>A (p.Pro870Thr) c.2716C>A (p.Pro906Thr) c.2698C>A (p.Pro900Thr) c.2422C>A (p.Pro808Thr) n.2997C>A c.2590C>A (p.Pro864Thr) c.2404C>A (p.Pro802Thr) n.3000C>A c.2695C>A (p.Pro899Thr) c.2761C>A (p.Pro921Thr) c.2713C>A (p.Pro905Thr) c.2578C>A (p.Pro860Thr) | |
16 | g.28835630C>G | CA395408234 | ATXN2L | c.2767C>G (p.Pro923Ala) c.742C>G (p.Pro248Ala) n.3141C>G c.2785C>G (p.Pro929Ala) c.1831C>G (n.1831C>G) c.36C>G c.745C>G (p.Pro249Ala) c.287C>G c.2788C>G (p.Pro930Ala) c.2770C>G (p.Pro924Ala) c.2608C>G (p.Pro870Ala) c.2716C>G (p.Pro906Ala) c.2698C>G (p.Pro900Ala) c.2422C>G (p.Pro808Ala) n.2997C>G c.2590C>G (p.Pro864Ala) c.2404C>G (p.Pro802Ala) n.3000C>G c.2695C>G (p.Pro899Ala) c.2761C>G (p.Pro921Ala) c.2713C>G (p.Pro905Ala) c.2578C>G (p.Pro860Ala) | |
16 | g.28835630C>T | CA395408235 | ATXN2L | c.2767C>T (p.Pro923Ser) c.742C>T (p.Pro248Ser) n.3141C>T c.2785C>T (p.Pro929Ser) c.1831C>T (n.1831C>T) c.36C>T c.745C>T (p.Pro249Ser) c.287C>T c.2788C>T (p.Pro930Ser) c.2770C>T (p.Pro924Ser) c.2608C>T (p.Pro870Ser) c.2716C>T (p.Pro906Ser) c.2698C>T (p.Pro900Ser) c.2422C>T (p.Pro808Ser) n.2997C>T c.2590C>T (p.Pro864Ser) c.2404C>T (p.Pro802Ser) n.3000C>T c.2695C>T (p.Pro899Ser) c.2761C>T (p.Pro921Ser) c.2713C>T (p.Pro905Ser) c.2578C>T (p.Pro860Ser) | |
16 | g.28835631C>A | CA395408236 | ATXN2L | c.2768C>A (p.Pro923Gln) c.743C>A (p.Pro248Gln) n.3142C>A c.2786C>A (p.Pro929Gln) c.1832C>A (n.1832C>A) c.37C>A c.746C>A (p.Pro249Gln) c.288C>A c.2789C>A (p.Pro930Gln) c.2771C>A (p.Pro924Gln) c.2609C>A (p.Pro870Gln) c.2717C>A (p.Pro906Gln) c.2699C>A (p.Pro900Gln) c.2423C>A (p.Pro808Gln) n.2998C>A c.2591C>A (p.Pro864Gln) c.2405C>A (p.Pro802Gln) n.3001C>A c.2696C>A (p.Pro899Gln) c.2762C>A (p.Pro921Gln) c.2714C>A (p.Pro905Gln) c.2579C>A (p.Pro860Gln) | gnomAD v4 |
16 | g.28835631C= | CA2215806341 | ATXN2L | c.2768C= (p.Pro923=) c.743C= (p.Pro248=) n.3142C= c.2786C= (p.Pro929=) c.1832C= (n.1832C=) c.37C= c.746C= (p.Pro249=) c.288C= c.2789C= (p.Pro930=) c.2771C= (p.Pro924=) c.2609C= (p.Pro870=) c.2717C= (p.Pro906=) c.2699C= (p.Pro900=) c.2423C= (p.Pro808=) n.2998C= c.2591C= (p.Pro864=) c.2405C= (p.Pro802=) n.3001C= c.2696C= (p.Pro899=) c.2762C= (p.Pro921=) c.2714C= (p.Pro905=) c.2579C= (p.Pro860=) | |
16 | g.28835631C>G | CA395408237 | ATXN2L | c.2768C>G (p.Pro923Arg) c.743C>G (p.Pro248Arg) n.3142C>G c.2786C>G (p.Pro929Arg) c.1832C>G (n.1832C>G) c.37C>G c.746C>G (p.Pro249Arg) c.288C>G c.2789C>G (p.Pro930Arg) c.2771C>G (p.Pro924Arg) c.2609C>G (p.Pro870Arg) c.2717C>G (p.Pro906Arg) c.2699C>G (p.Pro900Arg) c.2423C>G (p.Pro808Arg) n.2998C>G c.2591C>G (p.Pro864Arg) c.2405C>G (p.Pro802Arg) n.3001C>G c.2696C>G (p.Pro899Arg) c.2762C>G (p.Pro921Arg) c.2714C>G (p.Pro905Arg) c.2579C>G (p.Pro860Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835631C>T | CA395408238 | ATXN2L | c.2768C>T (p.Pro923Leu) c.743C>T (p.Pro248Leu) n.3142C>T c.2786C>T (p.Pro929Leu) c.1832C>T (n.1832C>T) c.37C>T c.746C>T (p.Pro249Leu) c.288C>T c.2789C>T (p.Pro930Leu) c.2771C>T (p.Pro924Leu) c.2609C>T (p.Pro870Leu) c.2717C>T (p.Pro906Leu) c.2699C>T (p.Pro900Leu) c.2423C>T (p.Pro808Leu) n.2998C>T c.2591C>T (p.Pro864Leu) c.2405C>T (p.Pro802Leu) n.3001C>T c.2696C>T (p.Pro899Leu) c.2762C>T (p.Pro921Leu) c.2714C>T (p.Pro905Leu) c.2579C>T (p.Pro860Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835632G>A | CA7985090 | ATXN2L | c.2769G>A (p.Pro923=) c.744G>A (p.Pro248=) n.3143G>A c.2787G>A (p.Pro929=) c.1833G>A (n.1833G>A) c.38G>A c.747G>A (p.Pro249=) c.289G>A c.2790G>A (p.Pro930=) c.2772G>A (p.Pro924=) c.2610G>A (p.Pro870=) c.2718G>A (p.Pro906=) c.2700G>A (p.Pro900=) c.2424G>A (p.Pro808=) n.2999G>A c.2592G>A (p.Pro864=) c.2406G>A (p.Pro802=) n.3002G>A c.2697G>A (p.Pro899=) c.2763G>A (p.Pro921=) c.2715G>A (p.Pro905=) c.2580G>A (p.Pro860=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835632G>C | CA494868679 | ATXN2L | c.2769G>C (p.Pro923=) c.744G>C (p.Pro248=) n.3143G>C c.2787G>C (p.Pro929=) c.1833G>C (n.1833G>C) c.38G>C c.747G>C (p.Pro249=) c.289G>C c.2790G>C (p.Pro930=) c.2772G>C (p.Pro924=) c.2610G>C (p.Pro870=) c.2718G>C (p.Pro906=) c.2700G>C (p.Pro900=) c.2424G>C (p.Pro808=) n.2999G>C c.2592G>C (p.Pro864=) c.2406G>C (p.Pro802=) n.3002G>C c.2697G>C (p.Pro899=) c.2763G>C (p.Pro921=) c.2715G>C (p.Pro905=) c.2580G>C (p.Pro860=) | |
16 | g.28835632G= | CA2215806348 | ATXN2L | c.2769G= (p.Pro923=) c.744G= (p.Pro248=) n.3143G= c.2787G= (p.Pro929=) c.1833G= (n.1833G=) c.38G= c.747G= (p.Pro249=) c.289G= c.2790G= (p.Pro930=) c.2772G= (p.Pro924=) c.2610G= (p.Pro870=) c.2718G= (p.Pro906=) c.2700G= (p.Pro900=) c.2424G= (p.Pro808=) n.2999G= c.2592G= (p.Pro864=) c.2406G= (p.Pro802=) n.3002G= c.2697G= (p.Pro899=) c.2763G= (p.Pro921=) c.2715G= (p.Pro905=) c.2580G= (p.Pro860=) | |
16 | g.28835632G>T | CA279230758 | ATXN2L | c.2769G>T (p.Pro923=) c.744G>T (p.Pro248=) n.3143G>T c.2787G>T (p.Pro929=) c.1833G>T (n.1833G>T) c.38G>T c.747G>T (p.Pro249=) c.289G>T c.2790G>T (p.Pro930=) c.2772G>T (p.Pro924=) c.2610G>T (p.Pro870=) c.2718G>T (p.Pro906=) c.2700G>T (p.Pro900=) c.2424G>T (p.Pro808=) n.2999G>T c.2592G>T (p.Pro864=) c.2406G>T (p.Pro802=) n.3002G>T c.2697G>T (p.Pro899=) c.2763G>T (p.Pro921=) c.2715G>T (p.Pro905=) c.2580G>T (p.Pro860=) | dbSNP |
16 | g.28835633C>A | CA395408240 | ATXN2L | c.2770C>A (p.Pro924Thr) c.745C>A (p.Pro249Thr) n.3144C>A c.2788C>A (p.Pro930Thr) c.1834C>A (n.1834C>A) c.39C>A c.748C>A (p.Pro250Thr) c.290C>A c.2791C>A (p.Pro931Thr) c.2773C>A (p.Pro925Thr) c.2611C>A (p.Pro871Thr) c.2719C>A (p.Pro907Thr) c.2701C>A (p.Pro901Thr) c.2425C>A (p.Pro809Thr) n.3000C>A c.2593C>A (p.Pro865Thr) c.2407C>A (p.Pro803Thr) n.3003C>A c.2698C>A (p.Pro900Thr) c.2764C>A (p.Pro922Thr) c.2716C>A (p.Pro906Thr) c.2581C>A (p.Pro861Thr) | |
16 | g.28835633C>G | CA395408241 | ATXN2L | c.2770C>G (p.Pro924Ala) c.745C>G (p.Pro249Ala) n.3144C>G c.2788C>G (p.Pro930Ala) c.1834C>G (n.1834C>G) c.39C>G c.748C>G (p.Pro250Ala) c.290C>G c.2791C>G (p.Pro931Ala) c.2773C>G (p.Pro925Ala) c.2611C>G (p.Pro871Ala) c.2719C>G (p.Pro907Ala) c.2701C>G (p.Pro901Ala) c.2425C>G (p.Pro809Ala) n.3000C>G c.2593C>G (p.Pro865Ala) c.2407C>G (p.Pro803Ala) n.3003C>G c.2698C>G (p.Pro900Ala) c.2764C>G (p.Pro922Ala) c.2716C>G (p.Pro906Ala) c.2581C>G (p.Pro861Ala) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28835633C>T | CA395408239 | ATXN2L | c.2770C>T (p.Pro924Ser) c.745C>T (p.Pro249Ser) n.3144C>T c.2788C>T (p.Pro930Ser) c.1834C>T (n.1834C>T) c.39C>T c.748C>T (p.Pro250Ser) c.290C>T c.2791C>T (p.Pro931Ser) c.2773C>T (p.Pro925Ser) c.2611C>T (p.Pro871Ser) c.2719C>T (p.Pro907Ser) c.2701C>T (p.Pro901Ser) c.2425C>T (p.Pro809Ser) n.3000C>T c.2593C>T (p.Pro865Ser) c.2407C>T (p.Pro803Ser) n.3003C>T c.2698C>T (p.Pro900Ser) c.2764C>T (p.Pro922Ser) c.2716C>T (p.Pro906Ser) c.2581C>T (p.Pro861Ser) | gnomAD v4 |
16 | g.28835634C>A | CA395408242 | ATXN2L | c.2771C>A (p.Pro924His) c.746C>A (p.Pro249His) n.3145C>A c.2789C>A (p.Pro930His) c.1835C>A (n.1835C>A) c.40C>A c.749C>A (p.Pro250His) c.291C>A c.2792C>A (p.Pro931His) c.2774C>A (p.Pro925His) c.2612C>A (p.Pro871His) c.2720C>A (p.Pro907His) c.2702C>A (p.Pro901His) c.2426C>A (p.Pro809His) n.3001C>A c.2594C>A (p.Pro865His) c.2408C>A (p.Pro803His) n.3004C>A c.2699C>A (p.Pro900His) c.2765C>A (p.Pro922His) c.2717C>A (p.Pro906His) c.2582C>A (p.Pro861His) | |
16 | g.28835634C= | CA2215806353 | ATXN2L | c.2771C= (p.Pro924=) c.746C= (p.Pro249=) n.3145C= c.2789C= (p.Pro930=) c.1835C= (n.1835C=) c.40C= c.749C= (p.Pro250=) c.291C= c.2792C= (p.Pro931=) c.2774C= (p.Pro925=) c.2612C= (p.Pro871=) c.2720C= (p.Pro907=) c.2702C= (p.Pro901=) c.2426C= (p.Pro809=) n.3001C= c.2594C= (p.Pro865=) c.2408C= (p.Pro803=) n.3004C= c.2699C= (p.Pro900=) c.2765C= (p.Pro922=) c.2717C= (p.Pro906=) c.2582C= (p.Pro861=) | |
16 | g.28835634C>G | CA395408243 | ATXN2L | c.2771C>G (p.Pro924Arg) c.746C>G (p.Pro249Arg) n.3145C>G c.2789C>G (p.Pro930Arg) c.1835C>G (n.1835C>G) c.40C>G c.749C>G (p.Pro250Arg) c.291C>G c.2792C>G (p.Pro931Arg) c.2774C>G (p.Pro925Arg) c.2612C>G (p.Pro871Arg) c.2720C>G (p.Pro907Arg) c.2702C>G (p.Pro901Arg) c.2426C>G (p.Pro809Arg) n.3001C>G c.2594C>G (p.Pro865Arg) c.2408C>G (p.Pro803Arg) n.3004C>G c.2699C>G (p.Pro900Arg) c.2765C>G (p.Pro922Arg) c.2717C>G (p.Pro906Arg) c.2582C>G (p.Pro861Arg) | |
16 | g.28835634C>T | CA395408244 | ATXN2L | c.2771C>T (p.Pro924Leu) c.746C>T (p.Pro249Leu) n.3145C>T c.2789C>T (p.Pro930Leu) c.1835C>T (n.1835C>T) c.40C>T c.749C>T (p.Pro250Leu) c.291C>T c.2792C>T (p.Pro931Leu) c.2774C>T (p.Pro925Leu) c.2612C>T (p.Pro871Leu) c.2720C>T (p.Pro907Leu) c.2702C>T (p.Pro901Leu) c.2426C>T (p.Pro809Leu) n.3001C>T c.2594C>T (p.Pro865Leu) c.2408C>T (p.Pro803Leu) n.3004C>T c.2699C>T (p.Pro900Leu) c.2765C>T (p.Pro922Leu) c.2717C>T (p.Pro906Leu) c.2582C>T (p.Pro861Leu) | dbSNP gnomAD v2 |
16 | g.28835635C>A | CA494868702 | ATXN2L | c.2772C>A (p.Pro924=) c.747C>A (p.Pro249=) n.3146C>A c.2790C>A (p.Pro930=) c.1836C>A (n.1836C>A) c.41C>A c.750C>A (p.Pro250=) c.292C>A c.2793C>A (p.Pro931=) c.2775C>A (p.Pro925=) c.2613C>A (p.Pro871=) c.2721C>A (p.Pro907=) c.2703C>A (p.Pro901=) c.2427C>A (p.Pro809=) n.3002C>A c.2595C>A (p.Pro865=) c.2409C>A (p.Pro803=) n.3005C>A c.2700C>A (p.Pro900=) c.2766C>A (p.Pro922=) c.2718C>A (p.Pro906=) c.2583C>A (p.Pro861=) | |
16 | g.28835635C= | CA2215806356 | ATXN2L | c.2772C= (p.Pro924=) c.747C= (p.Pro249=) n.3146C= c.2790C= (p.Pro930=) c.1836C= (n.1836C=) c.41C= c.750C= (p.Pro250=) c.292C= c.2793C= (p.Pro931=) c.2775C= (p.Pro925=) c.2613C= (p.Pro871=) c.2721C= (p.Pro907=) c.2703C= (p.Pro901=) c.2427C= (p.Pro809=) n.3002C= c.2595C= (p.Pro865=) c.2409C= (p.Pro803=) n.3005C= c.2700C= (p.Pro900=) c.2766C= (p.Pro922=) c.2718C= (p.Pro906=) c.2583C= (p.Pro861=) | |
16 | g.28835635C>G | CA494868704 | ATXN2L | c.2772C>G (p.Pro924=) c.747C>G (p.Pro249=) n.3146C>G c.2790C>G (p.Pro930=) c.1836C>G (n.1836C>G) c.41C>G c.750C>G (p.Pro250=) c.292C>G c.2793C>G (p.Pro931=) c.2775C>G (p.Pro925=) c.2613C>G (p.Pro871=) c.2721C>G (p.Pro907=) c.2703C>G (p.Pro901=) c.2427C>G (p.Pro809=) n.3002C>G c.2595C>G (p.Pro865=) c.2409C>G (p.Pro803=) n.3005C>G c.2700C>G (p.Pro900=) c.2766C>G (p.Pro922=) c.2718C>G (p.Pro906=) c.2583C>G (p.Pro861=) | |
16 | g.28835635C>T | CA7985091 | ATXN2L | c.2772C>T (p.Pro924=) c.747C>T (p.Pro249=) n.3146C>T c.2790C>T (p.Pro930=) c.1836C>T (n.1836C>T) c.41C>T c.750C>T (p.Pro250=) c.292C>T c.2793C>T (p.Pro931=) c.2775C>T (p.Pro925=) c.2613C>T (p.Pro871=) c.2721C>T (p.Pro907=) c.2703C>T (p.Pro901=) c.2427C>T (p.Pro809=) n.3002C>T c.2595C>T (p.Pro865=) c.2409C>T (p.Pro803=) n.3005C>T c.2700C>T (p.Pro900=) c.2766C>T (p.Pro922=) c.2718C>T (p.Pro906=) c.2583C>T (p.Pro861=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835636T>A | CA395408245 | ATXN2L | c.2773T>A (p.Ser925Thr) c.748T>A (p.Ser250Thr) n.3147T>A c.2791T>A (p.Ser931Thr) c.1837T>A (n.1837T>A) c.42T>A c.751T>A (p.Ser251Thr) c.293T>A c.2794T>A (p.Ser932Thr) c.2776T>A (p.Ser926Thr) c.2614T>A (p.Ser872Thr) c.2722T>A (p.Ser908Thr) c.2704T>A (p.Ser902Thr) c.2428T>A (p.Ser810Thr) n.3003T>A c.2596T>A (p.Ser866Thr) c.2410T>A (p.Ser804Thr) n.3006T>A c.2701T>A (p.Ser901Thr) c.2767T>A (p.Ser923Thr) c.2719T>A (p.Ser907Thr) c.2584T>A (p.Ser862Thr) | |
16 | g.28835636T>C | CA395408246 | ATXN2L | c.2773T>C (p.Ser925Pro) c.748T>C (p.Ser250Pro) n.3147T>C c.2791T>C (p.Ser931Pro) c.1837T>C (n.1837T>C) c.42T>C c.751T>C (p.Ser251Pro) c.293T>C c.2794T>C (p.Ser932Pro) c.2776T>C (p.Ser926Pro) c.2614T>C (p.Ser872Pro) c.2722T>C (p.Ser908Pro) c.2704T>C (p.Ser902Pro) c.2428T>C (p.Ser810Pro) n.3003T>C c.2596T>C (p.Ser866Pro) c.2410T>C (p.Ser804Pro) n.3006T>C c.2701T>C (p.Ser901Pro) c.2767T>C (p.Ser923Pro) c.2719T>C (p.Ser907Pro) c.2584T>C (p.Ser862Pro) | |
16 | g.28835636T>G | CA395408247 | ATXN2L | c.2773T>G (p.Ser925Ala) c.748T>G (p.Ser250Ala) n.3147T>G c.2791T>G (p.Ser931Ala) c.1837T>G (n.1837T>G) c.42T>G c.751T>G (p.Ser251Ala) c.293T>G c.2794T>G (p.Ser932Ala) c.2776T>G (p.Ser926Ala) c.2614T>G (p.Ser872Ala) c.2722T>G (p.Ser908Ala) c.2704T>G (p.Ser902Ala) c.2428T>G (p.Ser810Ala) n.3003T>G c.2596T>G (p.Ser866Ala) c.2410T>G (p.Ser804Ala) n.3006T>G c.2701T>G (p.Ser901Ala) c.2767T>G (p.Ser923Ala) c.2719T>G (p.Ser907Ala) c.2584T>G (p.Ser862Ala) | |
16 | g.28835637C>A | CA395408248 | ATXN2L | c.2774C>A (p.Ser925Tyr) c.749C>A (p.Ser250Tyr) n.3148C>A c.2792C>A (p.Ser931Tyr) c.1838C>A (n.1838C>A) c.43C>A c.752C>A (p.Ser251Tyr) c.294C>A c.2795C>A (p.Ser932Tyr) c.2777C>A (p.Ser926Tyr) c.2615C>A (p.Ser872Tyr) c.2723C>A (p.Ser908Tyr) c.2705C>A (p.Ser902Tyr) c.2429C>A (p.Ser810Tyr) n.3004C>A c.2597C>A (p.Ser866Tyr) c.2411C>A (p.Ser804Tyr) n.3007C>A c.2702C>A (p.Ser901Tyr) c.2768C>A (p.Ser923Tyr) c.2720C>A (p.Ser907Tyr) c.2585C>A (p.Ser862Tyr) | |
16 | g.28835637C>G | CA395408249 | ATXN2L | c.2774C>G (p.Ser925Cys) c.749C>G (p.Ser250Cys) n.3148C>G c.2792C>G (p.Ser931Cys) c.1838C>G (n.1838C>G) c.43C>G c.752C>G (p.Ser251Cys) c.294C>G c.2795C>G (p.Ser932Cys) c.2777C>G (p.Ser926Cys) c.2615C>G (p.Ser872Cys) c.2723C>G (p.Ser908Cys) c.2705C>G (p.Ser902Cys) c.2429C>G (p.Ser810Cys) n.3004C>G c.2597C>G (p.Ser866Cys) c.2411C>G (p.Ser804Cys) n.3007C>G c.2702C>G (p.Ser901Cys) c.2768C>G (p.Ser923Cys) c.2720C>G (p.Ser907Cys) c.2585C>G (p.Ser862Cys) | |
16 | g.28835637C>T | CA395408250 | ATXN2L | c.2774C>T (p.Ser925Phe) c.749C>T (p.Ser250Phe) n.3148C>T c.2792C>T (p.Ser931Phe) c.1838C>T (n.1838C>T) c.43C>T c.752C>T (p.Ser251Phe) c.294C>T c.2795C>T (p.Ser932Phe) c.2777C>T (p.Ser926Phe) c.2615C>T (p.Ser872Phe) c.2723C>T (p.Ser908Phe) c.2705C>T (p.Ser902Phe) c.2429C>T (p.Ser810Phe) n.3004C>T c.2597C>T (p.Ser866Phe) c.2411C>T (p.Ser804Phe) n.3007C>T c.2702C>T (p.Ser901Phe) c.2768C>T (p.Ser923Phe) c.2720C>T (p.Ser907Phe) c.2585C>T (p.Ser862Phe) | |
16 | g.28835638T>A | CA494868723 | ATXN2L | c.2775T>A (p.Ser925=) c.750T>A (p.Ser250=) n.3149T>A c.2793T>A (p.Ser931=) c.1839T>A (n.1839T>A) c.44T>A c.753T>A (p.Ser251=) c.295T>A c.2796T>A (p.Ser932=) c.2778T>A (p.Ser926=) c.2616T>A (p.Ser872=) c.2724T>A (p.Ser908=) c.2706T>A (p.Ser902=) c.2430T>A (p.Ser810=) n.3005T>A c.2598T>A (p.Ser866=) c.2412T>A (p.Ser804=) n.3008T>A c.2703T>A (p.Ser901=) c.2769T>A (p.Ser923=) c.2721T>A (p.Ser907=) c.2586T>A (p.Ser862=) | |
16 | g.28835638T>C | CA494868724 | ATXN2L | c.2775T>C (p.Ser925=) c.750T>C (p.Ser250=) n.3149T>C c.2793T>C (p.Ser931=) c.1839T>C (n.1839T>C) c.44T>C c.753T>C (p.Ser251=) c.295T>C c.2796T>C (p.Ser932=) c.2778T>C (p.Ser926=) c.2616T>C (p.Ser872=) c.2724T>C (p.Ser908=) c.2706T>C (p.Ser902=) c.2430T>C (p.Ser810=) n.3005T>C c.2598T>C (p.Ser866=) c.2412T>C (p.Ser804=) n.3008T>C c.2703T>C (p.Ser901=) c.2769T>C (p.Ser923=) c.2721T>C (p.Ser907=) c.2586T>C (p.Ser862=) | dbSNP gnomAD v4 |
16 | g.28835638T>G | CA494868727 | ATXN2L | c.2775T>G (p.Ser925=) c.750T>G (p.Ser250=) n.3149T>G c.2793T>G (p.Ser931=) c.1839T>G (n.1839T>G) c.44T>G c.753T>G (p.Ser251=) c.295T>G c.2796T>G (p.Ser932=) c.2778T>G (p.Ser926=) c.2616T>G (p.Ser872=) c.2724T>G (p.Ser908=) c.2706T>G (p.Ser902=) c.2430T>G (p.Ser810=) n.3005T>G c.2598T>G (p.Ser866=) c.2412T>G (p.Ser804=) n.3008T>G c.2703T>G (p.Ser901=) c.2769T>G (p.Ser923=) c.2721T>G (p.Ser907=) c.2586T>G (p.Ser862=) | |
16 | g.28835638T= | CA2215806359 | ATXN2L | c.2775T= (p.Ser925=) c.750T= (p.Ser250=) n.3149T= c.2793T= (p.Ser931=) c.1839T= (n.1839T=) c.44T= c.753T= (p.Ser251=) c.295T= c.2796T= (p.Ser932=) c.2778T= (p.Ser926=) c.2616T= (p.Ser872=) c.2724T= (p.Ser908=) c.2706T= (p.Ser902=) c.2430T= (p.Ser810=) n.3005T= c.2598T= (p.Ser866=) c.2412T= (p.Ser804=) n.3008T= c.2703T= (p.Ser901=) c.2769T= (p.Ser923=) c.2721T= (p.Ser907=) c.2586T= (p.Ser862=) | |
16 | g.28835639C>A | CA395408251 | ATXN2L | c.2776C>A (p.Leu926Met) c.751C>A (p.Leu251Met) n.3150C>A c.2794C>A (p.Leu932Met) c.1840C>A (n.1840C>A) c.45C>A c.754C>A (p.Leu252Met) c.296C>A c.2797C>A (p.Leu933Met) c.2779C>A (p.Leu927Met) c.2617C>A (p.Leu873Met) c.2725C>A (p.Leu909Met) c.2707C>A (p.Leu903Met) c.2431C>A (p.Leu811Met) n.3006C>A c.2599C>A (p.Leu867Met) c.2413C>A (p.Leu805Met) n.3009C>A c.2704C>A (p.Leu902Met) c.2770C>A (p.Leu924Met) c.2722C>A (p.Leu908Met) c.2587C>A (p.Leu863Met) | |
16 | g.28835639C= | CA2215806364 | ATXN2L | c.2776C= (p.Leu926=) c.751C= (p.Leu251=) n.3150C= c.2794C= (p.Leu932=) c.1840C= (n.1840C=) c.45C= c.754C= (p.Leu252=) c.296C= c.2797C= (p.Leu933=) c.2779C= (p.Leu927=) c.2617C= (p.Leu873=) c.2725C= (p.Leu909=) c.2707C= (p.Leu903=) c.2431C= (p.Leu811=) n.3006C= c.2599C= (p.Leu867=) c.2413C= (p.Leu805=) n.3009C= c.2704C= (p.Leu902=) c.2770C= (p.Leu924=) c.2722C= (p.Leu908=) c.2587C= (p.Leu863=) | |
16 | g.28835639C>G | CA395408252 | ATXN2L | c.2776C>G (p.Leu926Val) c.751C>G (p.Leu251Val) n.3150C>G c.2794C>G (p.Leu932Val) c.1840C>G (n.1840C>G) c.45C>G c.754C>G (p.Leu252Val) c.296C>G c.2797C>G (p.Leu933Val) c.2779C>G (p.Leu927Val) c.2617C>G (p.Leu873Val) c.2725C>G (p.Leu909Val) c.2707C>G (p.Leu903Val) c.2431C>G (p.Leu811Val) n.3006C>G c.2599C>G (p.Leu867Val) c.2413C>G (p.Leu805Val) n.3009C>G c.2704C>G (p.Leu902Val) c.2770C>G (p.Leu924Val) c.2722C>G (p.Leu908Val) c.2587C>G (p.Leu863Val) | |
16 | g.28835639C>T | CA494868737 | ATXN2L | c.2776C>T (p.Leu926=) c.751C>T (p.Leu251=) n.3150C>T c.2794C>T (p.Leu932=) c.1840C>T (n.1840C>T) c.45C>T c.754C>T (p.Leu252=) c.296C>T c.2797C>T (p.Leu933=) c.2779C>T (p.Leu927=) c.2617C>T (p.Leu873=) c.2725C>T (p.Leu909=) c.2707C>T (p.Leu903=) c.2431C>T (p.Leu811=) n.3006C>T c.2599C>T (p.Leu867=) c.2413C>T (p.Leu805=) n.3009C>T c.2704C>T (p.Leu902=) c.2770C>T (p.Leu924=) c.2722C>T (p.Leu908=) c.2587C>T (p.Leu863=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835640T>A | CA395408255 | ATXN2L | c.2777T>A (p.Leu926Gln) c.752T>A (p.Leu251Gln) n.3151T>A c.2795T>A (p.Leu932Gln) c.1841T>A (n.1841T>A) c.46T>A c.755T>A (p.Leu252Gln) c.297T>A c.2798T>A (p.Leu933Gln) c.2780T>A (p.Leu927Gln) c.2618T>A (p.Leu873Gln) c.2726T>A (p.Leu909Gln) c.2708T>A (p.Leu903Gln) c.2432T>A (p.Leu811Gln) n.3007T>A c.2600T>A (p.Leu867Gln) c.2414T>A (p.Leu805Gln) n.3010T>A c.2705T>A (p.Leu902Gln) c.2771T>A (p.Leu924Gln) c.2723T>A (p.Leu908Gln) c.2588T>A (p.Leu863Gln) | |
16 | g.28835640T>C | CA395408254 | ATXN2L | c.2777T>C (p.Leu926Pro) c.752T>C (p.Leu251Pro) n.3151T>C c.2795T>C (p.Leu932Pro) c.1841T>C (n.1841T>C) c.46T>C c.755T>C (p.Leu252Pro) c.297T>C c.2798T>C (p.Leu933Pro) c.2780T>C (p.Leu927Pro) c.2618T>C (p.Leu873Pro) c.2726T>C (p.Leu909Pro) c.2708T>C (p.Leu903Pro) c.2432T>C (p.Leu811Pro) n.3007T>C c.2600T>C (p.Leu867Pro) c.2414T>C (p.Leu805Pro) n.3010T>C c.2705T>C (p.Leu902Pro) c.2771T>C (p.Leu924Pro) c.2723T>C (p.Leu908Pro) c.2588T>C (p.Leu863Pro) | |
16 | g.28835640T>G | CA395408253 | ATXN2L | c.2777T>G (p.Leu926Arg) c.752T>G (p.Leu251Arg) n.3151T>G c.2795T>G (p.Leu932Arg) c.1841T>G (n.1841T>G) c.46T>G c.755T>G (p.Leu252Arg) c.297T>G c.2798T>G (p.Leu933Arg) c.2780T>G (p.Leu927Arg) c.2618T>G (p.Leu873Arg) c.2726T>G (p.Leu909Arg) c.2708T>G (p.Leu903Arg) c.2432T>G (p.Leu811Arg) n.3007T>G c.2600T>G (p.Leu867Arg) c.2414T>G (p.Leu805Arg) n.3010T>G c.2705T>G (p.Leu902Arg) c.2771T>G (p.Leu924Arg) c.2723T>G (p.Leu908Arg) c.2588T>G (p.Leu863Arg) | |
16 | g.28835641G>A | CA494868748 | ATXN2L | c.2778G>A (p.Leu926=) c.753G>A (p.Leu251=) n.3152G>A c.2796G>A (p.Leu932=) c.1842G>A (n.1842G>A) c.47G>A c.756G>A (p.Leu252=) c.298G>A c.2799G>A (p.Leu933=) c.2781G>A (p.Leu927=) c.2619G>A (p.Leu873=) c.2727G>A (p.Leu909=) c.2709G>A (p.Leu903=) c.2433G>A (p.Leu811=) n.3008G>A c.2601G>A (p.Leu867=) c.2415G>A (p.Leu805=) n.3011G>A c.2706G>A (p.Leu902=) c.2772G>A (p.Leu924=) c.2724G>A (p.Leu908=) c.2589G>A (p.Leu863=) | dbSNP |
16 | g.28835641G>C | CA494868752 | ATXN2L | c.2778G>C (p.Leu926=) c.753G>C (p.Leu251=) n.3152G>C c.2796G>C (p.Leu932=) c.1842G>C (n.1842G>C) c.47G>C c.756G>C (p.Leu252=) c.298G>C c.2799G>C (p.Leu933=) c.2781G>C (p.Leu927=) c.2619G>C (p.Leu873=) c.2727G>C (p.Leu909=) c.2709G>C (p.Leu903=) c.2433G>C (p.Leu811=) n.3008G>C c.2601G>C (p.Leu867=) c.2415G>C (p.Leu805=) n.3011G>C c.2706G>C (p.Leu902=) c.2772G>C (p.Leu924=) c.2724G>C (p.Leu908=) c.2589G>C (p.Leu863=) | |
16 | g.28835641G= | CA2215806368 | ATXN2L | c.2778G= (p.Leu926=) c.753G= (p.Leu251=) n.3152G= c.2796G= (p.Leu932=) c.1842G= (n.1842G=) c.47G= c.756G= (p.Leu252=) c.298G= c.2799G= (p.Leu933=) c.2781G= (p.Leu927=) c.2619G= (p.Leu873=) c.2727G= (p.Leu909=) c.2709G= (p.Leu903=) c.2433G= (p.Leu811=) n.3008G= c.2601G= (p.Leu867=) c.2415G= (p.Leu805=) n.3011G= c.2706G= (p.Leu902=) c.2772G= (p.Leu924=) c.2724G= (p.Leu908=) c.2589G= (p.Leu863=) | |
16 | g.28835641G>T | CA494868754 | ATXN2L | c.2778G>T (p.Leu926=) c.753G>T (p.Leu251=) n.3152G>T c.2796G>T (p.Leu932=) c.1842G>T (n.1842G>T) c.47G>T c.756G>T (p.Leu252=) c.298G>T c.2799G>T (p.Leu933=) c.2781G>T (p.Leu927=) c.2619G>T (p.Leu873=) c.2727G>T (p.Leu909=) c.2709G>T (p.Leu903=) c.2433G>T (p.Leu811=) n.3008G>T c.2601G>T (p.Leu867=) c.2415G>T (p.Leu805=) n.3011G>T c.2706G>T (p.Leu902=) c.2772G>T (p.Leu924=) c.2724G>T (p.Leu908=) c.2589G>T (p.Leu863=) | |
16 | g.28835642C>A | CA395408256 | ATXN2L | c.2779C>A (p.Pro927Thr) c.754C>A (p.Pro252Thr) n.3153C>A c.2797C>A (p.Pro933Thr) c.1843C>A (n.1843C>A) c.48C>A c.757C>A (p.Pro253Thr) c.299C>A c.2800C>A (p.Pro934Thr) c.2782C>A (p.Pro928Thr) c.2620C>A (p.Pro874Thr) c.2728C>A (p.Pro910Thr) c.2710C>A (p.Pro904Thr) c.2434C>A (p.Pro812Thr) n.3009C>A c.2602C>A (p.Pro868Thr) c.2416C>A (p.Pro806Thr) n.3012C>A c.2707C>A (p.Pro903Thr) c.2773C>A (p.Pro925Thr) c.2725C>A (p.Pro909Thr) c.2590C>A (p.Pro864Thr) | gnomAD v4 |
16 | g.28835642C>G | CA395408257 | ATXN2L | c.2779C>G (p.Pro927Ala) c.754C>G (p.Pro252Ala) n.3153C>G c.2797C>G (p.Pro933Ala) c.1843C>G (n.1843C>G) c.48C>G c.757C>G (p.Pro253Ala) c.299C>G c.2800C>G (p.Pro934Ala) c.2782C>G (p.Pro928Ala) c.2620C>G (p.Pro874Ala) c.2728C>G (p.Pro910Ala) c.2710C>G (p.Pro904Ala) c.2434C>G (p.Pro812Ala) n.3009C>G c.2602C>G (p.Pro868Ala) c.2416C>G (p.Pro806Ala) n.3012C>G c.2707C>G (p.Pro903Ala) c.2773C>G (p.Pro925Ala) c.2725C>G (p.Pro909Ala) c.2590C>G (p.Pro864Ala) | gnomAD v4 |
16 | g.28835642C>T | CA395408258 | ATXN2L | c.2779C>T (p.Pro927Ser) c.754C>T (p.Pro252Ser) n.3153C>T c.2797C>T (p.Pro933Ser) c.1843C>T (n.1843C>T) c.48C>T c.757C>T (p.Pro253Ser) c.299C>T c.2800C>T (p.Pro934Ser) c.2782C>T (p.Pro928Ser) c.2620C>T (p.Pro874Ser) c.2728C>T (p.Pro910Ser) c.2710C>T (p.Pro904Ser) c.2434C>T (p.Pro812Ser) n.3009C>T c.2602C>T (p.Pro868Ser) c.2416C>T (p.Pro806Ser) n.3012C>T c.2707C>T (p.Pro903Ser) c.2773C>T (p.Pro925Ser) c.2725C>T (p.Pro909Ser) c.2590C>T (p.Pro864Ser) | |
16 | g.28835643C>A | CA395408259 | ATXN2L | c.2780C>A (p.Pro927Gln) c.755C>A (p.Pro252Gln) n.3154C>A c.2798C>A (p.Pro933Gln) c.1844C>A (n.1844C>A) c.49C>A c.758C>A (p.Pro253Gln) c.300C>A c.2801C>A (p.Pro934Gln) c.2783C>A (p.Pro928Gln) c.2621C>A (p.Pro874Gln) c.2729C>A (p.Pro910Gln) c.2711C>A (p.Pro904Gln) c.2435C>A (p.Pro812Gln) n.3010C>A c.2603C>A (p.Pro868Gln) c.2417C>A (p.Pro806Gln) n.3013C>A c.2708C>A (p.Pro903Gln) c.2774C>A (p.Pro925Gln) c.2726C>A (p.Pro909Gln) c.2591C>A (p.Pro864Gln) | |
16 | g.28835643C= | CA2215806372 | ATXN2L | c.2780C= (p.Pro927=) c.755C= (p.Pro252=) n.3154C= c.2798C= (p.Pro933=) c.1844C= (n.1844C=) c.49C= c.758C= (p.Pro253=) c.300C= c.2801C= (p.Pro934=) c.2783C= (p.Pro928=) c.2621C= (p.Pro874=) c.2729C= (p.Pro910=) c.2711C= (p.Pro904=) c.2435C= (p.Pro812=) n.3010C= c.2603C= (p.Pro868=) c.2417C= (p.Pro806=) n.3013C= c.2708C= (p.Pro903=) c.2774C= (p.Pro925=) c.2726C= (p.Pro909=) c.2591C= (p.Pro864=) | |
16 | g.28835643C>G | CA395408260 | ATXN2L | c.2780C>G (p.Pro927Arg) c.755C>G (p.Pro252Arg) n.3154C>G c.2798C>G (p.Pro933Arg) c.1844C>G (n.1844C>G) c.49C>G c.758C>G (p.Pro253Arg) c.300C>G c.2801C>G (p.Pro934Arg) c.2783C>G (p.Pro928Arg) c.2621C>G (p.Pro874Arg) c.2729C>G (p.Pro910Arg) c.2711C>G (p.Pro904Arg) c.2435C>G (p.Pro812Arg) n.3010C>G c.2603C>G (p.Pro868Arg) c.2417C>G (p.Pro806Arg) n.3013C>G c.2708C>G (p.Pro903Arg) c.2774C>G (p.Pro925Arg) c.2726C>G (p.Pro909Arg) c.2591C>G (p.Pro864Arg) | |
16 | g.28835643C>T | CA395408261 | ATXN2L | c.2780C>T (p.Pro927Leu) c.755C>T (p.Pro252Leu) n.3154C>T c.2798C>T (p.Pro933Leu) c.1844C>T (n.1844C>T) c.49C>T c.758C>T (p.Pro253Leu) c.300C>T c.2801C>T (p.Pro934Leu) c.2783C>T (p.Pro928Leu) c.2621C>T (p.Pro874Leu) c.2729C>T (p.Pro910Leu) c.2711C>T (p.Pro904Leu) c.2435C>T (p.Pro812Leu) n.3010C>T c.2603C>T (p.Pro868Leu) c.2417C>T (p.Pro806Leu) n.3013C>T c.2708C>T (p.Pro903Leu) c.2774C>T (p.Pro925Leu) c.2726C>T (p.Pro909Leu) c.2591C>T (p.Pro864Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835644A= | CA2215806375 | ATXN2L | c.2781A= (p.Pro927=) c.756A= (p.Pro252=) n.3155A= c.2799A= (p.Pro933=) c.1845A= (n.1845A=) c.50A= c.759A= (p.Pro253=) c.301A= c.2802A= (p.Pro934=) c.2784A= (p.Pro928=) c.2622A= (p.Pro874=) c.2730A= (p.Pro910=) c.2712A= (p.Pro904=) c.2436A= (p.Pro812=) n.3011A= c.2604A= (p.Pro868=) c.2418A= (p.Pro806=) n.3014A= c.2709A= (p.Pro903=) c.2775A= (p.Pro925=) c.2727A= (p.Pro909=) c.2592A= (p.Pro864=) | |
16 | g.28835644A>C | CA7985092 | ATXN2L | c.2781A>C (p.Pro927=) c.756A>C (p.Pro252=) n.3155A>C c.2799A>C (p.Pro933=) c.1845A>C (n.1845A>C) c.50A>C c.759A>C (p.Pro253=) c.301A>C c.2802A>C (p.Pro934=) c.2784A>C (p.Pro928=) c.2622A>C (p.Pro874=) c.2730A>C (p.Pro910=) c.2712A>C (p.Pro904=) c.2436A>C (p.Pro812=) n.3011A>C c.2604A>C (p.Pro868=) c.2418A>C (p.Pro806=) n.3014A>C c.2709A>C (p.Pro903=) c.2775A>C (p.Pro925=) c.2727A>C (p.Pro909=) c.2592A>C (p.Pro864=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835644A>G | CA494868777 | ATXN2L | c.2781A>G (p.Pro927=) c.756A>G (p.Pro252=) n.3155A>G c.2799A>G (p.Pro933=) c.1845A>G (n.1845A>G) c.50A>G c.759A>G (p.Pro253=) c.301A>G c.2802A>G (p.Pro934=) c.2784A>G (p.Pro928=) c.2622A>G (p.Pro874=) c.2730A>G (p.Pro910=) c.2712A>G (p.Pro904=) c.2436A>G (p.Pro812=) n.3011A>G c.2604A>G (p.Pro868=) c.2418A>G (p.Pro806=) n.3014A>G c.2709A>G (p.Pro903=) c.2775A>G (p.Pro925=) c.2727A>G (p.Pro909=) c.2592A>G (p.Pro864=) | |
16 | g.28835644A>T | CA494868778 | ATXN2L | c.2781A>T (p.Pro927=) c.756A>T (p.Pro252=) n.3155A>T c.2799A>T (p.Pro933=) c.1845A>T (n.1845A>T) c.50A>T c.759A>T (p.Pro253=) c.301A>T c.2802A>T (p.Pro934=) c.2784A>T (p.Pro928=) c.2622A>T (p.Pro874=) c.2730A>T (p.Pro910=) c.2712A>T (p.Pro904=) c.2436A>T (p.Pro812=) n.3011A>T c.2604A>T (p.Pro868=) c.2418A>T (p.Pro806=) n.3014A>T c.2709A>T (p.Pro903=) c.2775A>T (p.Pro925=) c.2727A>T (p.Pro909=) c.2592A>T (p.Pro864=) | |
16 | g.28835645C>A | CA395408262 | ATXN2L | c.2782C>A (p.Pro928Thr) c.757C>A (p.Pro253Thr) n.3156C>A c.2800C>A (p.Pro934Thr) c.1846C>A (n.1846C>A) c.51C>A c.760C>A (p.Pro254Thr) c.302C>A c.2803C>A (p.Pro935Thr) c.2785C>A (p.Pro929Thr) c.2623C>A (p.Pro875Thr) c.2731C>A (p.Pro911Thr) c.2713C>A (p.Pro905Thr) c.2437C>A (p.Pro813Thr) n.3012C>A c.2605C>A (p.Pro869Thr) c.2419C>A (p.Pro807Thr) n.3015C>A c.2710C>A (p.Pro904Thr) c.2776C>A (p.Pro926Thr) c.2728C>A (p.Pro910Thr) c.2593C>A (p.Pro865Thr) | |
16 | g.28835645C>G | CA395408263 | ATXN2L | c.2782C>G (p.Pro928Ala) c.757C>G (p.Pro253Ala) n.3156C>G c.2800C>G (p.Pro934Ala) c.1846C>G (n.1846C>G) c.51C>G c.760C>G (p.Pro254Ala) c.302C>G c.2803C>G (p.Pro935Ala) c.2785C>G (p.Pro929Ala) c.2623C>G (p.Pro875Ala) c.2731C>G (p.Pro911Ala) c.2713C>G (p.Pro905Ala) c.2437C>G (p.Pro813Ala) n.3012C>G c.2605C>G (p.Pro869Ala) c.2419C>G (p.Pro807Ala) n.3015C>G c.2710C>G (p.Pro904Ala) c.2776C>G (p.Pro926Ala) c.2728C>G (p.Pro910Ala) c.2593C>G (p.Pro865Ala) | |
16 | g.28835645C>T | CA395408264 | ATXN2L | c.2782C>T (p.Pro928Ser) c.757C>T (p.Pro253Ser) n.3156C>T c.2800C>T (p.Pro934Ser) c.1846C>T (n.1846C>T) c.51C>T c.760C>T (p.Pro254Ser) c.302C>T c.2803C>T (p.Pro935Ser) c.2785C>T (p.Pro929Ser) c.2623C>T (p.Pro875Ser) c.2731C>T (p.Pro911Ser) c.2713C>T (p.Pro905Ser) c.2437C>T (p.Pro813Ser) n.3012C>T c.2605C>T (p.Pro869Ser) c.2419C>T (p.Pro807Ser) n.3015C>T c.2710C>T (p.Pro904Ser) c.2776C>T (p.Pro926Ser) c.2728C>T (p.Pro910Ser) c.2593C>T (p.Pro865Ser) | gnomAD v4 |
16 | g.28835646C>A | CA7985093 | ATXN2L | c.2783C>A (p.Pro928Gln) c.758C>A (p.Pro253Gln) n.3157C>A c.2801C>A (p.Pro934Gln) c.1847C>A (n.1847C>A) c.52C>A c.761C>A (p.Pro254Gln) c.303C>A c.2804C>A (p.Pro935Gln) c.2786C>A (p.Pro929Gln) c.2624C>A (p.Pro875Gln) c.2732C>A (p.Pro911Gln) c.2714C>A (p.Pro905Gln) c.2438C>A (p.Pro813Gln) n.3013C>A c.2606C>A (p.Pro869Gln) c.2420C>A (p.Pro807Gln) n.3016C>A c.2711C>A (p.Pro904Gln) c.2777C>A (p.Pro926Gln) c.2729C>A (p.Pro910Gln) c.2594C>A (p.Pro865Gln) | dbSNP ExAC gnomAD v2 |
16 | g.28835646C= | CA2215806378 | ATXN2L | c.2783C= (p.Pro928=) c.758C= (p.Pro253=) n.3157C= c.2801C= (p.Pro934=) c.1847C= (n.1847C=) c.52C= c.761C= (p.Pro254=) c.303C= c.2804C= (p.Pro935=) c.2786C= (p.Pro929=) c.2624C= (p.Pro875=) c.2732C= (p.Pro911=) c.2714C= (p.Pro905=) c.2438C= (p.Pro813=) n.3013C= c.2606C= (p.Pro869=) c.2420C= (p.Pro807=) n.3016C= c.2711C= (p.Pro904=) c.2777C= (p.Pro926=) c.2729C= (p.Pro910=) c.2594C= (p.Pro865=) | |
16 | g.28835646C>G | CA395408265 | ATXN2L | c.2783C>G (p.Pro928Arg) c.758C>G (p.Pro253Arg) n.3157C>G c.2801C>G (p.Pro934Arg) c.1847C>G (n.1847C>G) c.52C>G c.761C>G (p.Pro254Arg) c.303C>G c.2804C>G (p.Pro935Arg) c.2786C>G (p.Pro929Arg) c.2624C>G (p.Pro875Arg) c.2732C>G (p.Pro911Arg) c.2714C>G (p.Pro905Arg) c.2438C>G (p.Pro813Arg) n.3013C>G c.2606C>G (p.Pro869Arg) c.2420C>G (p.Pro807Arg) n.3016C>G c.2711C>G (p.Pro904Arg) c.2777C>G (p.Pro926Arg) c.2729C>G (p.Pro910Arg) c.2594C>G (p.Pro865Arg) | |
16 | g.28835646C>T | CA395408266 | ATXN2L | c.2783C>T (p.Pro928Leu) c.758C>T (p.Pro253Leu) n.3157C>T c.2801C>T (p.Pro934Leu) c.1847C>T (n.1847C>T) c.52C>T c.761C>T (p.Pro254Leu) c.303C>T c.2804C>T (p.Pro935Leu) c.2786C>T (p.Pro929Leu) c.2624C>T (p.Pro875Leu) c.2732C>T (p.Pro911Leu) c.2714C>T (p.Pro905Leu) c.2438C>T (p.Pro813Leu) n.3013C>T c.2606C>T (p.Pro869Leu) c.2420C>T (p.Pro807Leu) n.3016C>T c.2711C>T (p.Pro904Leu) c.2777C>T (p.Pro926Leu) c.2729C>T (p.Pro910Leu) c.2594C>T (p.Pro865Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835647G>A | CA494868798 | ATXN2L | c.2784G>A (p.Pro928=) c.759G>A (p.Pro253=) n.3158G>A c.2802G>A (p.Pro934=) c.1848G>A (n.1848G>A) c.53G>A c.762G>A (p.Pro254=) c.304G>A c.2805G>A (p.Pro935=) c.2787G>A (p.Pro929=) c.2625G>A (p.Pro875=) c.2733G>A (p.Pro911=) c.2715G>A (p.Pro905=) c.2439G>A (p.Pro813=) n.3014G>A c.2607G>A (p.Pro869=) c.2421G>A (p.Pro807=) n.3017G>A c.2712G>A (p.Pro904=) c.2778G>A (p.Pro926=) c.2730G>A (p.Pro910=) c.2595G>A (p.Pro865=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.28835647G>C | CA494868800 | ATXN2L | c.2784G>C (p.Pro928=) c.759G>C (p.Pro253=) n.3158G>C c.2802G>C (p.Pro934=) c.1848G>C (n.1848G>C) c.53G>C c.762G>C (p.Pro254=) c.304G>C c.2805G>C (p.Pro935=) c.2787G>C (p.Pro929=) c.2625G>C (p.Pro875=) c.2733G>C (p.Pro911=) c.2715G>C (p.Pro905=) c.2439G>C (p.Pro813=) n.3014G>C c.2607G>C (p.Pro869=) c.2421G>C (p.Pro807=) n.3017G>C c.2712G>C (p.Pro904=) c.2778G>C (p.Pro926=) c.2730G>C (p.Pro910=) c.2595G>C (p.Pro865=) | |
16 | g.28835647G= | CA2215806385 | ATXN2L | c.2784G= (p.Pro928=) c.759G= (p.Pro253=) n.3158G= c.2802G= (p.Pro934=) c.1848G= (n.1848G=) c.53G= c.762G= (p.Pro254=) c.304G= c.2805G= (p.Pro935=) c.2787G= (p.Pro929=) c.2625G= (p.Pro875=) c.2733G= (p.Pro911=) c.2715G= (p.Pro905=) c.2439G= (p.Pro813=) n.3014G= c.2607G= (p.Pro869=) c.2421G= (p.Pro807=) n.3017G= c.2712G= (p.Pro904=) c.2778G= (p.Pro926=) c.2730G= (p.Pro910=) c.2595G= (p.Pro865=) | |
16 | g.28835647G>T | CA494868795 | ATXN2L | c.2784G>T (p.Pro928=) c.759G>T (p.Pro253=) n.3158G>T c.2802G>T (p.Pro934=) c.1848G>T (n.1848G>T) c.53G>T c.762G>T (p.Pro254=) c.304G>T c.2805G>T (p.Pro935=) c.2787G>T (p.Pro929=) c.2625G>T (p.Pro875=) c.2733G>T (p.Pro911=) c.2715G>T (p.Pro905=) c.2439G>T (p.Pro813=) n.3014G>T c.2607G>T (p.Pro869=) c.2421G>T (p.Pro807=) n.3017G>T c.2712G>T (p.Pro904=) c.2778G>T (p.Pro926=) c.2730G>T (p.Pro910=) c.2595G>T (p.Pro865=) | gnomAD v4 |
16 | g.28835648G>A | CA395408269 | ATXN2L | c.2785G>A (p.Gly929Arg) c.760G>A (p.Gly254Arg) n.3159G>A c.2803G>A (p.Gly935Arg) c.1849G>A (n.1849G>A) c.54G>A c.763G>A (p.Gly255Arg) c.305G>A c.2806G>A (p.Gly936Arg) c.2788G>A (p.Gly930Arg) c.2626G>A (p.Gly876Arg) c.2734G>A (p.Gly912Arg) c.2716G>A (p.Gly906Arg) c.2440G>A (p.Gly814Arg) n.3015G>A c.2608G>A (p.Gly870Arg) c.2422G>A (p.Gly808Arg) n.3018G>A c.2713G>A (p.Gly905Arg) c.2779G>A (p.Gly927Arg) c.2731G>A (p.Gly911Arg) c.2596G>A (p.Gly866Arg) | |
16 | g.28835648G>C | CA395408268 | ATXN2L | c.2785G>C (p.Gly929Arg) c.760G>C (p.Gly254Arg) n.3159G>C c.2803G>C (p.Gly935Arg) c.1849G>C (n.1849G>C) c.54G>C c.763G>C (p.Gly255Arg) c.305G>C c.2806G>C (p.Gly936Arg) c.2788G>C (p.Gly930Arg) c.2626G>C (p.Gly876Arg) c.2734G>C (p.Gly912Arg) c.2716G>C (p.Gly906Arg) c.2440G>C (p.Gly814Arg) n.3015G>C c.2608G>C (p.Gly870Arg) c.2422G>C (p.Gly808Arg) n.3018G>C c.2713G>C (p.Gly905Arg) c.2779G>C (p.Gly927Arg) c.2731G>C (p.Gly911Arg) c.2596G>C (p.Gly866Arg) | |
16 | g.28835648G>T | CA395408267 | ATXN2L | c.2785G>T (p.Gly929Ter) c.760G>T (p.Gly254Ter) n.3159G>T c.2803G>T (p.Gly935Ter) c.1849G>T (n.1849G>T) c.54G>T c.763G>T (p.Gly255Ter) c.305G>T c.2806G>T (p.Gly936Ter) c.2788G>T (p.Gly930Ter) c.2626G>T (p.Gly876Ter) c.2734G>T (p.Gly912Ter) c.2716G>T (p.Gly906Ter) c.2440G>T (p.Gly814Ter) n.3015G>T c.2608G>T (p.Gly870Ter) c.2422G>T (p.Gly808Ter) n.3018G>T c.2713G>T (p.Gly905Ter) c.2779G>T (p.Gly927Ter) c.2731G>T (p.Gly911Ter) c.2596G>T (p.Gly866Ter) | |
16 | g.28835649G>A | CA395408270 | ATXN2L | c.2786G>A (p.Gly929Glu) c.761G>A (p.Gly254Glu) n.3160G>A c.2804G>A (p.Gly935Glu) c.1850G>A (n.1850G>A) c.55G>A c.764G>A (p.Gly255Glu) c.306G>A c.2807G>A (p.Gly936Glu) c.2789G>A (p.Gly930Glu) c.2627G>A (p.Gly876Glu) c.2735G>A (p.Gly912Glu) c.2717G>A (p.Gly906Glu) c.2441G>A (p.Gly814Glu) n.3016G>A c.2609G>A (p.Gly870Glu) c.2423G>A (p.Gly808Glu) n.3019G>A c.2714G>A (p.Gly905Glu) c.2780G>A (p.Gly927Glu) c.2732G>A (p.Gly911Glu) c.2597G>A (p.Gly866Glu) | |
16 | g.28835649G>C | CA395408272 | ATXN2L | c.2786G>C (p.Gly929Ala) c.761G>C (p.Gly254Ala) n.3160G>C c.2804G>C (p.Gly935Ala) c.1850G>C (n.1850G>C) c.55G>C c.764G>C (p.Gly255Ala) c.306G>C c.2807G>C (p.Gly936Ala) c.2789G>C (p.Gly930Ala) c.2627G>C (p.Gly876Ala) c.2735G>C (p.Gly912Ala) c.2717G>C (p.Gly906Ala) c.2441G>C (p.Gly814Ala) n.3016G>C c.2609G>C (p.Gly870Ala) c.2423G>C (p.Gly808Ala) n.3019G>C c.2714G>C (p.Gly905Ala) c.2780G>C (p.Gly927Ala) c.2732G>C (p.Gly911Ala) c.2597G>C (p.Gly866Ala) | |
16 | g.28835649G>T | CA395408271 | ATXN2L | c.2786G>T (p.Gly929Val) c.761G>T (p.Gly254Val) n.3160G>T c.2804G>T (p.Gly935Val) c.1850G>T (n.1850G>T) c.55G>T c.764G>T (p.Gly255Val) c.306G>T c.2807G>T (p.Gly936Val) c.2789G>T (p.Gly930Val) c.2627G>T (p.Gly876Val) c.2735G>T (p.Gly912Val) c.2717G>T (p.Gly906Val) c.2441G>T (p.Gly814Val) n.3016G>T c.2609G>T (p.Gly870Val) c.2423G>T (p.Gly808Val) n.3019G>T c.2714G>T (p.Gly905Val) c.2780G>T (p.Gly927Val) c.2732G>T (p.Gly911Val) c.2597G>T (p.Gly866Val) | |
16 | g.28835650A>C | CA494868822 | ATXN2L | c.2787A>C (p.Gly929=) c.762A>C (p.Gly254=) n.3161A>C c.2805A>C (p.Gly935=) c.1851A>C (n.1851A>C) c.56A>C c.765A>C (p.Gly255=) c.307A>C c.2808A>C (p.Gly936=) c.2790A>C (p.Gly930=) c.2628A>C (p.Gly876=) c.2736A>C (p.Gly912=) c.2718A>C (p.Gly906=) c.2442A>C (p.Gly814=) n.3017A>C c.2610A>C (p.Gly870=) c.2424A>C (p.Gly808=) n.3020A>C c.2715A>C (p.Gly905=) c.2781A>C (p.Gly927=) c.2733A>C (p.Gly911=) c.2598A>C (p.Gly866=) | |
16 | g.28835650A>G | CA494868834 | ATXN2L | c.2787A>G (p.Gly929=) c.762A>G (p.Gly254=) n.3161A>G c.2805A>G (p.Gly935=) c.1851A>G (n.1851A>G) c.56A>G c.765A>G (p.Gly255=) c.307A>G c.2808A>G (p.Gly936=) c.2790A>G (p.Gly930=) c.2628A>G (p.Gly876=) c.2736A>G (p.Gly912=) c.2718A>G (p.Gly906=) c.2442A>G (p.Gly814=) n.3017A>G c.2610A>G (p.Gly870=) c.2424A>G (p.Gly808=) n.3020A>G c.2715A>G (p.Gly905=) c.2781A>G (p.Gly927=) c.2733A>G (p.Gly911=) c.2598A>G (p.Gly866=) | |
16 | g.28835650A>T | CA494868826 | ATXN2L | c.2787A>T (p.Gly929=) c.762A>T (p.Gly254=) n.3161A>T c.2805A>T (p.Gly935=) c.1851A>T (n.1851A>T) c.56A>T c.765A>T (p.Gly255=) c.307A>T c.2808A>T (p.Gly936=) c.2790A>T (p.Gly930=) c.2628A>T (p.Gly876=) c.2736A>T (p.Gly912=) c.2718A>T (p.Gly906=) c.2442A>T (p.Gly814=) n.3017A>T c.2610A>T (p.Gly870=) c.2424A>T (p.Gly808=) n.3020A>T c.2715A>T (p.Gly905=) c.2781A>T (p.Gly927=) c.2733A>T (p.Gly911=) c.2598A>T (p.Gly866=) | |
16 | g.28835651C>A | CA395408273 | ATXN2L | c.2788C>A (p.Pro930Thr) c.763C>A (p.Pro255Thr) n.3162C>A c.2806C>A (p.Pro936Thr) c.1852C>A (n.1852C>A) c.57C>A c.766C>A (p.Pro256Thr) c.308C>A c.2809C>A (p.Pro937Thr) c.2791C>A (p.Pro931Thr) c.2629C>A (p.Pro877Thr) c.2737C>A (p.Pro913Thr) c.2719C>A (p.Pro907Thr) c.2443C>A (p.Pro815Thr) n.3018C>A c.2611C>A (p.Pro871Thr) c.2425C>A (p.Pro809Thr) n.3021C>A c.2716C>A (p.Pro906Thr) c.2782C>A (p.Pro928Thr) c.2734C>A (p.Pro912Thr) c.2599C>A (p.Pro867Thr) | |
16 | g.28835651C= | CA2215806389 | ATXN2L | c.2788C= (p.Pro930=) c.763C= (p.Pro255=) n.3162C= c.2806C= (p.Pro936=) c.1852C= (n.1852C=) c.57C= c.766C= (p.Pro256=) c.308C= c.2809C= (p.Pro937=) c.2791C= (p.Pro931=) c.2629C= (p.Pro877=) c.2737C= (p.Pro913=) c.2719C= (p.Pro907=) c.2443C= (p.Pro815=) n.3018C= c.2611C= (p.Pro871=) c.2425C= (p.Pro809=) n.3021C= c.2716C= (p.Pro906=) c.2782C= (p.Pro928=) c.2734C= (p.Pro912=) c.2599C= (p.Pro867=) | |
16 | g.28835651C>G | CA395408275 | ATXN2L | c.2788C>G (p.Pro930Ala) c.763C>G (p.Pro255Ala) n.3162C>G c.2806C>G (p.Pro936Ala) c.1852C>G (n.1852C>G) c.57C>G c.766C>G (p.Pro256Ala) c.308C>G c.2809C>G (p.Pro937Ala) c.2791C>G (p.Pro931Ala) c.2629C>G (p.Pro877Ala) c.2737C>G (p.Pro913Ala) c.2719C>G (p.Pro907Ala) c.2443C>G (p.Pro815Ala) n.3018C>G c.2611C>G (p.Pro871Ala) c.2425C>G (p.Pro809Ala) n.3021C>G c.2716C>G (p.Pro906Ala) c.2782C>G (p.Pro928Ala) c.2734C>G (p.Pro912Ala) c.2599C>G (p.Pro867Ala) | |
16 | g.28835651C>T | CA395408274 | ATXN2L | c.2788C>T (p.Pro930Ser) c.763C>T (p.Pro255Ser) n.3162C>T c.2806C>T (p.Pro936Ser) c.1852C>T (n.1852C>T) c.57C>T c.766C>T (p.Pro256Ser) c.308C>T c.2809C>T (p.Pro937Ser) c.2791C>T (p.Pro931Ser) c.2629C>T (p.Pro877Ser) c.2737C>T (p.Pro913Ser) c.2719C>T (p.Pro907Ser) c.2443C>T (p.Pro815Ser) n.3018C>T c.2611C>T (p.Pro871Ser) c.2425C>T (p.Pro809Ser) n.3021C>T c.2716C>T (p.Pro906Ser) c.2782C>T (p.Pro928Ser) c.2734C>T (p.Pro912Ser) c.2599C>T (p.Pro867Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28835652C>A | CA395408276 | ATXN2L | c.2789C>A (p.Pro930His) c.764C>A (p.Pro255His) n.3163C>A c.2807C>A (p.Pro936His) c.1853C>A (n.1853C>A) c.58C>A c.767C>A (p.Pro256His) c.309C>A c.2810C>A (p.Pro937His) c.2792C>A (p.Pro931His) c.2630C>A (p.Pro877His) c.2738C>A (p.Pro913His) c.2720C>A (p.Pro907His) c.2444C>A (p.Pro815His) n.3019C>A c.2612C>A (p.Pro871His) c.2426C>A (p.Pro809His) n.3022C>A c.2717C>A (p.Pro906His) c.2783C>A (p.Pro928His) c.2735C>A (p.Pro912His) c.2600C>A (p.Pro867His) | |
16 | g.28835652C>G | CA395408277 | ATXN2L | c.2789C>G (p.Pro930Arg) c.764C>G (p.Pro255Arg) n.3163C>G c.2807C>G (p.Pro936Arg) c.1853C>G (n.1853C>G) c.58C>G c.767C>G (p.Pro256Arg) c.309C>G c.2810C>G (p.Pro937Arg) c.2792C>G (p.Pro931Arg) c.2630C>G (p.Pro877Arg) c.2738C>G (p.Pro913Arg) c.2720C>G (p.Pro907Arg) c.2444C>G (p.Pro815Arg) n.3019C>G c.2612C>G (p.Pro871Arg) c.2426C>G (p.Pro809Arg) n.3022C>G c.2717C>G (p.Pro906Arg) c.2783C>G (p.Pro928Arg) c.2735C>G (p.Pro912Arg) c.2600C>G (p.Pro867Arg) | gnomAD v4 |
16 | g.28835652C>T | CA395408278 | ATXN2L | c.2789C>T (p.Pro930Leu) c.764C>T (p.Pro255Leu) n.3163C>T c.2807C>T (p.Pro936Leu) c.1853C>T (n.1853C>T) c.58C>T c.767C>T (p.Pro256Leu) c.309C>T c.2810C>T (p.Pro937Leu) c.2792C>T (p.Pro931Leu) c.2630C>T (p.Pro877Leu) c.2738C>T (p.Pro913Leu) c.2720C>T (p.Pro907Leu) c.2444C>T (p.Pro815Leu) n.3019C>T c.2612C>T (p.Pro871Leu) c.2426C>T (p.Pro809Leu) n.3022C>T c.2717C>T (p.Pro906Leu) c.2783C>T (p.Pro928Leu) c.2735C>T (p.Pro912Leu) c.2600C>T (p.Pro867Leu) | |
16 | g.28835654_28835656del | CA2632528909 | ATXN2L | c.2791_2793del (p.Ser931del) c.766_768del (p.Ser256del) n.3165_3167del c.2809_2811del (p.Ser937del) c.1855_1857del (n.1855_1857del) c.60_62del c.769_771del (p.Ser257del) c.311_313del c.2812_2814del (p.Ser938del) c.2794_2796del (p.Ser932del) c.2632_2634del (p.Ser878del) c.2740_2742del (p.Ser914del) c.2722_2724del (p.Ser908del) c.2446_2448del (p.Ser816del) n.3021_3023del c.2614_2616del (p.Ser872del) c.2428_2430del (p.Ser810del) n.3024_3026del c.2719_2721del (p.Ser907del) c.2785_2787del (p.Ser929del) c.2737_2739del (p.Ser913del) c.2602_2604del (p.Ser868del) | gnomAD v4 |
16 | g.28835653T>A | CA494868866 | ATXN2L | c.2790T>A (p.Pro930=) c.765T>A (p.Pro255=) n.3164T>A c.2808T>A (p.Pro936=) c.1854T>A (n.1854T>A) c.59T>A c.768T>A (p.Pro256=) c.310T>A c.2811T>A (p.Pro937=) c.2793T>A (p.Pro931=) c.2631T>A (p.Pro877=) c.2739T>A (p.Pro913=) c.2721T>A (p.Pro907=) c.2445T>A (p.Pro815=) n.3020T>A c.2613T>A (p.Pro871=) c.2427T>A (p.Pro809=) n.3023T>A c.2718T>A (p.Pro906=) c.2784T>A (p.Pro928=) c.2736T>A (p.Pro912=) c.2601T>A (p.Pro867=) | |
16 | g.28835653T>C | CA494868869 | ATXN2L | c.2790T>C (p.Pro930=) c.765T>C (p.Pro255=) n.3164T>C c.2808T>C (p.Pro936=) c.1854T>C (n.1854T>C) c.59T>C c.768T>C (p.Pro256=) c.310T>C c.2811T>C (p.Pro937=) c.2793T>C (p.Pro931=) c.2631T>C (p.Pro877=) c.2739T>C (p.Pro913=) c.2721T>C (p.Pro907=) c.2445T>C (p.Pro815=) n.3020T>C c.2613T>C (p.Pro871=) c.2427T>C (p.Pro809=) n.3023T>C c.2718T>C (p.Pro906=) c.2784T>C (p.Pro928=) c.2736T>C (p.Pro912=) c.2601T>C (p.Pro867=) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28835653T>G | CA494868874 | ATXN2L | c.2790T>G (p.Pro930=) c.765T>G (p.Pro255=) n.3164T>G c.2808T>G (p.Pro936=) c.1854T>G (n.1854T>G) c.59T>G c.768T>G (p.Pro256=) c.310T>G c.2811T>G (p.Pro937=) c.2793T>G (p.Pro931=) c.2631T>G (p.Pro877=) c.2739T>G (p.Pro913=) c.2721T>G (p.Pro907=) c.2445T>G (p.Pro815=) n.3020T>G c.2613T>G (p.Pro871=) c.2427T>G (p.Pro809=) n.3023T>G c.2718T>G (p.Pro906=) c.2784T>G (p.Pro928=) c.2736T>G (p.Pro912=) c.2601T>G (p.Pro867=) | |
16 | g.28835654T>A | CA395408279 | ATXN2L | c.2791T>A (p.Ser931Thr) c.766T>A (p.Ser256Thr) n.3165T>A c.2809T>A (p.Ser937Thr) c.1855T>A (n.1855T>A) c.60T>A c.769T>A (p.Ser257Thr) c.311T>A c.2812T>A (p.Ser938Thr) c.2794T>A (p.Ser932Thr) c.2632T>A (p.Ser878Thr) c.2740T>A (p.Ser914Thr) c.2722T>A (p.Ser908Thr) c.2446T>A (p.Ser816Thr) n.3021T>A c.2614T>A (p.Ser872Thr) c.2428T>A (p.Ser810Thr) n.3024T>A c.2719T>A (p.Ser907Thr) c.2785T>A (p.Ser929Thr) c.2737T>A (p.Ser913Thr) c.2602T>A (p.Ser868Thr) | |
16 | g.28835654T>C | CA7985094 | ATXN2L | c.2791T>C (p.Ser931Pro) c.766T>C (p.Ser256Pro) n.3165T>C c.2809T>C (p.Ser937Pro) c.1855T>C (n.1855T>C) c.60T>C c.769T>C (p.Ser257Pro) c.311T>C c.2812T>C (p.Ser938Pro) c.2794T>C (p.Ser932Pro) c.2632T>C (p.Ser878Pro) c.2740T>C (p.Ser914Pro) c.2722T>C (p.Ser908Pro) c.2446T>C (p.Ser816Pro) n.3021T>C c.2614T>C (p.Ser872Pro) c.2428T>C (p.Ser810Pro) n.3024T>C c.2719T>C (p.Ser907Pro) c.2785T>C (p.Ser929Pro) c.2737T>C (p.Ser913Pro) c.2602T>C (p.Ser868Pro) | dbSNP ExAC |
16 | g.28835654T>G | CA395408280 | ATXN2L | c.2791T>G (p.Ser931Ala) c.766T>G (p.Ser256Ala) n.3165T>G c.2809T>G (p.Ser937Ala) c.1855T>G (n.1855T>G) c.60T>G c.769T>G (p.Ser257Ala) c.311T>G c.2812T>G (p.Ser938Ala) c.2794T>G (p.Ser932Ala) c.2632T>G (p.Ser878Ala) c.2740T>G (p.Ser914Ala) c.2722T>G (p.Ser908Ala) c.2446T>G (p.Ser816Ala) n.3021T>G c.2614T>G (p.Ser872Ala) c.2428T>G (p.Ser810Ala) n.3024T>G c.2719T>G (p.Ser907Ala) c.2785T>G (p.Ser929Ala) c.2737T>G (p.Ser913Ala) c.2602T>G (p.Ser868Ala) | gnomAD v4 |
16 | g.28835654T= | CA2215806392 | ATXN2L | c.2791T= (p.Ser931=) c.766T= (p.Ser256=) n.3165T= c.2809T= (p.Ser937=) c.1855T= (n.1855T=) c.60T= c.769T= (p.Ser257=) c.311T= c.2812T= (p.Ser938=) c.2794T= (p.Ser932=) c.2632T= (p.Ser878=) c.2740T= (p.Ser914=) c.2722T= (p.Ser908=) c.2446T= (p.Ser816=) n.3021T= c.2614T= (p.Ser872=) c.2428T= (p.Ser810=) n.3024T= c.2719T= (p.Ser907=) c.2785T= (p.Ser929=) c.2737T= (p.Ser913=) c.2602T= (p.Ser868=) | |
16 | g.28835655C>A | CA395408281 | ATXN2L | c.2792C>A (p.Ser931Tyr) c.767C>A (p.Ser256Tyr) n.3166C>A c.2810C>A (p.Ser937Tyr) c.1856C>A (n.1856C>A) c.61C>A c.770C>A (p.Ser257Tyr) c.312C>A c.2813C>A (p.Ser938Tyr) c.2795C>A (p.Ser932Tyr) c.2633C>A (p.Ser878Tyr) c.2741C>A (p.Ser914Tyr) c.2723C>A (p.Ser908Tyr) c.2447C>A (p.Ser816Tyr) n.3022C>A c.2615C>A (p.Ser872Tyr) c.2429C>A (p.Ser810Tyr) n.3025C>A c.2720C>A (p.Ser907Tyr) c.2786C>A (p.Ser929Tyr) c.2738C>A (p.Ser913Tyr) c.2603C>A (p.Ser868Tyr) | |
16 | g.28835655C= | CA2215806395 | ATXN2L | c.2792C= (p.Ser931=) c.767C= (p.Ser256=) n.3166C= c.2810C= (p.Ser937=) c.1856C= (n.1856C=) c.61C= c.770C= (p.Ser257=) c.312C= c.2813C= (p.Ser938=) c.2795C= (p.Ser932=) c.2633C= (p.Ser878=) c.2741C= (p.Ser914=) c.2723C= (p.Ser908=) c.2447C= (p.Ser816=) n.3022C= c.2615C= (p.Ser872=) c.2429C= (p.Ser810=) n.3025C= c.2720C= (p.Ser907=) c.2786C= (p.Ser929=) c.2738C= (p.Ser913=) c.2603C= (p.Ser868=) | |
16 | g.28835655C>G | CA395408282 | ATXN2L | c.2792C>G (p.Ser931Cys) c.767C>G (p.Ser256Cys) n.3166C>G c.2810C>G (p.Ser937Cys) c.1856C>G (n.1856C>G) c.61C>G c.770C>G (p.Ser257Cys) c.312C>G c.2813C>G (p.Ser938Cys) c.2795C>G (p.Ser932Cys) c.2633C>G (p.Ser878Cys) c.2741C>G (p.Ser914Cys) c.2723C>G (p.Ser908Cys) c.2447C>G (p.Ser816Cys) n.3022C>G c.2615C>G (p.Ser872Cys) c.2429C>G (p.Ser810Cys) n.3025C>G c.2720C>G (p.Ser907Cys) c.2786C>G (p.Ser929Cys) c.2738C>G (p.Ser913Cys) c.2603C>G (p.Ser868Cys) | |
16 | g.28835655C>T | CA279230771 | ATXN2L | c.2792C>T (p.Ser931Phe) c.767C>T (p.Ser256Phe) n.3166C>T c.2810C>T (p.Ser937Phe) c.1856C>T (n.1856C>T) c.61C>T c.770C>T (p.Ser257Phe) c.312C>T c.2813C>T (p.Ser938Phe) c.2795C>T (p.Ser932Phe) c.2633C>T (p.Ser878Phe) c.2741C>T (p.Ser914Phe) c.2723C>T (p.Ser908Phe) c.2447C>T (p.Ser816Phe) n.3022C>T c.2615C>T (p.Ser872Phe) c.2429C>T (p.Ser810Phe) n.3025C>T c.2720C>T (p.Ser907Phe) c.2786C>T (p.Ser929Phe) c.2738C>T (p.Ser913Phe) c.2603C>T (p.Ser868Phe) | dbSNP |
16 | g.28835656T>A | CA494868888 | ATXN2L | c.2793T>A (p.Ser931=) c.768T>A (p.Ser256=) n.3167T>A c.2811T>A (p.Ser937=) c.1857T>A (n.1857T>A) c.62T>A c.771T>A (p.Ser257=) c.313T>A c.2814T>A (p.Ser938=) c.2796T>A (p.Ser932=) c.2634T>A (p.Ser878=) c.2742T>A (p.Ser914=) c.2724T>A (p.Ser908=) c.2448T>A (p.Ser816=) n.3023T>A c.2616T>A (p.Ser872=) c.2430T>A (p.Ser810=) n.3026T>A c.2721T>A (p.Ser907=) c.2787T>A (p.Ser929=) c.2739T>A (p.Ser913=) c.2604T>A (p.Ser868=) | |
16 | g.28835656T>C | CA494868890 | ATXN2L | c.2793T>C (p.Ser931=) c.768T>C (p.Ser256=) n.3167T>C c.2811T>C (p.Ser937=) c.1857T>C (n.1857T>C) c.62T>C c.771T>C (p.Ser257=) c.313T>C c.2814T>C (p.Ser938=) c.2796T>C (p.Ser932=) c.2634T>C (p.Ser878=) c.2742T>C (p.Ser914=) c.2724T>C (p.Ser908=) c.2448T>C (p.Ser816=) n.3023T>C c.2616T>C (p.Ser872=) c.2430T>C (p.Ser810=) n.3026T>C c.2721T>C (p.Ser907=) c.2787T>C (p.Ser929=) c.2739T>C (p.Ser913=) c.2604T>C (p.Ser868=) | |
16 | g.28835656T>G | CA494868895 | ATXN2L | c.2793T>G (p.Ser931=) c.768T>G (p.Ser256=) n.3167T>G c.2811T>G (p.Ser937=) c.1857T>G (n.1857T>G) c.62T>G c.771T>G (p.Ser257=) c.313T>G c.2814T>G (p.Ser938=) c.2796T>G (p.Ser932=) c.2634T>G (p.Ser878=) c.2742T>G (p.Ser914=) c.2724T>G (p.Ser908=) c.2448T>G (p.Ser816=) n.3023T>G c.2616T>G (p.Ser872=) c.2430T>G (p.Ser810=) n.3026T>G c.2721T>G (p.Ser907=) c.2787T>G (p.Ser929=) c.2739T>G (p.Ser913=) c.2604T>G (p.Ser868=) | |
16 | g.28835657G>A | CA395408283 | ATXN2L | c.2794G>A (p.Ala932Thr) c.769G>A (p.Ala257Thr) n.3168G>A c.2812G>A (p.Ala938Thr) c.1858G>A (n.1858G>A) c.63G>A c.772G>A (p.Ala258Thr) c.314G>A c.2815G>A (p.Ala939Thr) c.2797G>A (p.Ala933Thr) c.2635G>A (p.Ala879Thr) c.2743G>A (p.Ala915Thr) c.2725G>A (p.Ala909Thr) c.2449G>A (p.Ala817Thr) n.3024G>A c.2617G>A (p.Ala873Thr) c.2431G>A (p.Ala811Thr) n.3027G>A c.2722G>A (p.Ala908Thr) c.2788G>A (p.Ala930Thr) c.2740G>A (p.Ala914Thr) c.2605G>A (p.Ala869Thr) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28835657G>C | CA395408284 | ATXN2L | c.2794G>C (p.Ala932Pro) c.769G>C (p.Ala257Pro) n.3168G>C c.2812G>C (p.Ala938Pro) c.1858G>C (n.1858G>C) c.63G>C c.772G>C (p.Ala258Pro) c.314G>C c.2815G>C (p.Ala939Pro) c.2797G>C (p.Ala933Pro) c.2635G>C (p.Ala879Pro) c.2743G>C (p.Ala915Pro) c.2725G>C (p.Ala909Pro) c.2449G>C (p.Ala817Pro) n.3024G>C c.2617G>C (p.Ala873Pro) c.2431G>C (p.Ala811Pro) n.3027G>C c.2722G>C (p.Ala908Pro) c.2788G>C (p.Ala930Pro) c.2740G>C (p.Ala914Pro) c.2605G>C (p.Ala869Pro) | |
16 | g.28835657G>T | CA395408285 | ATXN2L | c.2794G>T (p.Ala932Ser) c.769G>T (p.Ala257Ser) n.3168G>T c.2812G>T (p.Ala938Ser) c.1858G>T (n.1858G>T) c.63G>T c.772G>T (p.Ala258Ser) c.314G>T c.2815G>T (p.Ala939Ser) c.2797G>T (p.Ala933Ser) c.2635G>T (p.Ala879Ser) c.2743G>T (p.Ala915Ser) c.2725G>T (p.Ala909Ser) c.2449G>T (p.Ala817Ser) n.3024G>T c.2617G>T (p.Ala873Ser) c.2431G>T (p.Ala811Ser) n.3027G>T c.2722G>T (p.Ala908Ser) c.2788G>T (p.Ala930Ser) c.2740G>T (p.Ala914Ser) c.2605G>T (p.Ala869Ser) | |
16 | g.28835658C>A | CA395408288 | ATXN2L | c.2795C>A (p.Ala932Asp) c.770C>A (p.Ala257Asp) n.3169C>A c.2813C>A (p.Ala938Asp) c.1859C>A (n.1859C>A) c.64C>A c.773C>A (p.Ala258Asp) c.315C>A c.2816C>A (p.Ala939Asp) c.2798C>A (p.Ala933Asp) c.2636C>A (p.Ala879Asp) c.2744C>A (p.Ala915Asp) c.2726C>A (p.Ala909Asp) c.2450C>A (p.Ala817Asp) n.3025C>A c.2618C>A (p.Ala873Asp) c.2432C>A (p.Ala811Asp) n.3028C>A c.2723C>A (p.Ala908Asp) c.2789C>A (p.Ala930Asp) c.2741C>A (p.Ala914Asp) c.2606C>A (p.Ala869Asp) | |
16 | g.28835658C>G | CA395408286 | ATXN2L | c.2795C>G (p.Ala932Gly) c.770C>G (p.Ala257Gly) n.3169C>G c.2813C>G (p.Ala938Gly) c.1859C>G (n.1859C>G) c.64C>G c.773C>G (p.Ala258Gly) c.315C>G c.2816C>G (p.Ala939Gly) c.2798C>G (p.Ala933Gly) c.2636C>G (p.Ala879Gly) c.2744C>G (p.Ala915Gly) c.2726C>G (p.Ala909Gly) c.2450C>G (p.Ala817Gly) n.3025C>G c.2618C>G (p.Ala873Gly) c.2432C>G (p.Ala811Gly) n.3028C>G c.2723C>G (p.Ala908Gly) c.2789C>G (p.Ala930Gly) c.2741C>G (p.Ala914Gly) c.2606C>G (p.Ala869Gly) | |
16 | g.28835658C>T | CA395408287 | ATXN2L | c.2795C>T (p.Ala932Val) c.770C>T (p.Ala257Val) n.3169C>T c.2813C>T (p.Ala938Val) c.1859C>T (n.1859C>T) c.64C>T c.773C>T (p.Ala258Val) c.315C>T c.2816C>T (p.Ala939Val) c.2798C>T (p.Ala933Val) c.2636C>T (p.Ala879Val) c.2744C>T (p.Ala915Val) c.2726C>T (p.Ala909Val) c.2450C>T (p.Ala817Val) n.3025C>T c.2618C>T (p.Ala873Val) c.2432C>T (p.Ala811Val) n.3028C>T c.2723C>T (p.Ala908Val) c.2789C>T (p.Ala930Val) c.2741C>T (p.Ala914Val) c.2606C>T (p.Ala869Val) | |
16 | g.28835659C>A | CA494868915 | ATXN2L | c.2796C>A (p.Ala932=) c.771C>A (p.Ala257=) n.3170C>A c.2814C>A (p.Ala938=) c.1860C>A (n.1860C>A) c.65C>A c.774C>A (p.Ala258=) c.316C>A c.2817C>A (p.Ala939=) c.2799C>A (p.Ala933=) c.2637C>A (p.Ala879=) c.2745C>A (p.Ala915=) c.2727C>A (p.Ala909=) c.2451C>A (p.Ala817=) n.3026C>A c.2619C>A (p.Ala873=) c.2433C>A (p.Ala811=) n.3029C>A c.2724C>A (p.Ala908=) c.2790C>A (p.Ala930=) c.2742C>A (p.Ala914=) c.2607C>A (p.Ala869=) | |
16 | g.28835659C= | CA2215806403 | ATXN2L | c.2796C= (p.Ala932=) c.771C= (p.Ala257=) n.3170C= c.2814C= (p.Ala938=) c.1860C= (n.1860C=) c.65C= c.774C= (p.Ala258=) c.316C= c.2817C= (p.Ala939=) c.2799C= (p.Ala933=) c.2637C= (p.Ala879=) c.2745C= (p.Ala915=) c.2727C= (p.Ala909=) c.2451C= (p.Ala817=) n.3026C= c.2619C= (p.Ala873=) c.2433C= (p.Ala811=) n.3029C= c.2724C= (p.Ala908=) c.2790C= (p.Ala930=) c.2742C= (p.Ala914=) c.2607C= (p.Ala869=) | |
16 | g.28835659C>G | CA494868911 | ATXN2L | c.2796C>G (p.Ala932=) c.771C>G (p.Ala257=) n.3170C>G c.2814C>G (p.Ala938=) c.1860C>G (n.1860C>G) c.65C>G c.774C>G (p.Ala258=) c.316C>G c.2817C>G (p.Ala939=) c.2799C>G (p.Ala933=) c.2637C>G (p.Ala879=) c.2745C>G (p.Ala915=) c.2727C>G (p.Ala909=) c.2451C>G (p.Ala817=) n.3026C>G c.2619C>G (p.Ala873=) c.2433C>G (p.Ala811=) n.3029C>G c.2724C>G (p.Ala908=) c.2790C>G (p.Ala930=) c.2742C>G (p.Ala914=) c.2607C>G (p.Ala869=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835659C>T | CA494868909 | ATXN2L | c.2796C>T (p.Ala932=) c.771C>T (p.Ala257=) n.3170C>T c.2814C>T (p.Ala938=) c.1860C>T (n.1860C>T) c.65C>T c.774C>T (p.Ala258=) c.316C>T c.2817C>T (p.Ala939=) c.2799C>T (p.Ala933=) c.2637C>T (p.Ala879=) c.2745C>T (p.Ala915=) c.2727C>T (p.Ala909=) c.2451C>T (p.Ala817=) n.3026C>T c.2619C>T (p.Ala873=) c.2433C>T (p.Ala811=) n.3029C>T c.2724C>T (p.Ala908=) c.2790C>T (p.Ala930=) c.2742C>T (p.Ala914=) c.2607C>T (p.Ala869=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28835660C>A | CA395408289 | ATXN2L | c.2797C>A (p.Gln933Lys) c.772C>A (p.Gln258Lys) n.3171C>A c.2815C>A (p.Gln939Lys) c.1861C>A (n.1861C>A) c.66C>A c.775C>A (p.Gln259Lys) c.317C>A c.2818C>A (p.Gln940Lys) c.2800C>A (p.Gln934Lys) c.2638C>A (p.Gln880Lys) c.2746C>A (p.Gln916Lys) c.2728C>A (p.Gln910Lys) c.2452C>A (p.Gln818Lys) n.3027C>A c.2620C>A (p.Gln874Lys) c.2434C>A (p.Gln812Lys) n.3030C>A c.2725C>A (p.Gln909Lys) c.2791C>A (p.Gln931Lys) c.2743C>A (p.Gln915Lys) c.2608C>A (p.Gln870Lys) | |
16 | g.28835660C>G | CA395408290 | ATXN2L | c.2797C>G (p.Gln933Glu) c.772C>G (p.Gln258Glu) n.3171C>G c.2815C>G (p.Gln939Glu) c.1861C>G (n.1861C>G) c.66C>G c.775C>G (p.Gln259Glu) c.317C>G c.2818C>G (p.Gln940Glu) c.2800C>G (p.Gln934Glu) c.2638C>G (p.Gln880Glu) c.2746C>G (p.Gln916Glu) c.2728C>G (p.Gln910Glu) c.2452C>G (p.Gln818Glu) n.3027C>G c.2620C>G (p.Gln874Glu) c.2434C>G (p.Gln812Glu) n.3030C>G c.2725C>G (p.Gln909Glu) c.2791C>G (p.Gln931Glu) c.2743C>G (p.Gln915Glu) c.2608C>G (p.Gln870Glu) | |
16 | g.28835660C>T | CA395408291 | ATXN2L | c.2797C>T (p.Gln933Ter) c.772C>T (p.Gln258Ter) n.3171C>T c.2815C>T (p.Gln939Ter) c.1861C>T (n.1861C>T) c.66C>T c.775C>T (p.Gln259Ter) c.317C>T c.2818C>T (p.Gln940Ter) c.2800C>T (p.Gln934Ter) c.2638C>T (p.Gln880Ter) c.2746C>T (p.Gln916Ter) c.2728C>T (p.Gln910Ter) c.2452C>T (p.Gln818Ter) n.3027C>T c.2620C>T (p.Gln874Ter) c.2434C>T (p.Gln812Ter) n.3030C>T c.2725C>T (p.Gln909Ter) c.2791C>T (p.Gln931Ter) c.2743C>T (p.Gln915Ter) c.2608C>T (p.Gln870Ter) | |
16 | g.28835661A>C | CA395408292 | ATXN2L | c.2798A>C (p.Gln933Pro) c.773A>C (p.Gln258Pro) n.3172A>C c.2816A>C (p.Gln939Pro) c.1862A>C (n.1862A>C) c.67A>C c.776A>C (p.Gln259Pro) c.318A>C c.2819A>C (p.Gln940Pro) c.2801A>C (p.Gln934Pro) c.2639A>C (p.Gln880Pro) c.2747A>C (p.Gln916Pro) c.2729A>C (p.Gln910Pro) c.2453A>C (p.Gln818Pro) n.3028A>C c.2621A>C (p.Gln874Pro) c.2435A>C (p.Gln812Pro) n.3031A>C c.2726A>C (p.Gln909Pro) c.2792A>C (p.Gln931Pro) c.2744A>C (p.Gln915Pro) c.2609A>C (p.Gln870Pro) | |
16 | g.28835661A>G | CA395408293 | ATXN2L | c.2798A>G (p.Gln933Arg) c.773A>G (p.Gln258Arg) n.3172A>G c.2816A>G (p.Gln939Arg) c.1862A>G (n.1862A>G) c.67A>G c.776A>G (p.Gln259Arg) c.318A>G c.2819A>G (p.Gln940Arg) c.2801A>G (p.Gln934Arg) c.2639A>G (p.Gln880Arg) c.2747A>G (p.Gln916Arg) c.2729A>G (p.Gln910Arg) c.2453A>G (p.Gln818Arg) n.3028A>G c.2621A>G (p.Gln874Arg) c.2435A>G (p.Gln812Arg) n.3031A>G c.2726A>G (p.Gln909Arg) c.2792A>G (p.Gln931Arg) c.2744A>G (p.Gln915Arg) c.2609A>G (p.Gln870Arg) | gnomAD v4 |
16 | g.28835661A>T | CA395408294 | ATXN2L | c.2798A>T (p.Gln933Leu) c.773A>T (p.Gln258Leu) n.3172A>T c.2816A>T (p.Gln939Leu) c.1862A>T (n.1862A>T) c.67A>T c.776A>T (p.Gln259Leu) c.318A>T c.2819A>T (p.Gln940Leu) c.2801A>T (p.Gln934Leu) c.2639A>T (p.Gln880Leu) c.2747A>T (p.Gln916Leu) c.2729A>T (p.Gln910Leu) c.2453A>T (p.Gln818Leu) n.3028A>T c.2621A>T (p.Gln874Leu) c.2435A>T (p.Gln812Leu) n.3031A>T c.2726A>T (p.Gln909Leu) c.2792A>T (p.Gln931Leu) c.2744A>T (p.Gln915Leu) c.2609A>T (p.Gln870Leu) | |
16 | g.28835662G>A | CA494868948 | ATXN2L | c.2799G>A (p.Gln933=) c.774G>A (p.Gln258=) n.3173G>A c.2817G>A (p.Gln939=) c.1863G>A (n.1863G>A) c.68G>A c.777G>A (p.Gln259=) c.319G>A c.2820G>A (p.Gln940=) c.2802G>A (p.Gln934=) c.2640G>A (p.Gln880=) c.2748G>A (p.Gln916=) c.2730G>A (p.Gln910=) c.2454G>A (p.Gln818=) n.3029G>A c.2622G>A (p.Gln874=) c.2436G>A (p.Gln812=) n.3032G>A c.2727G>A (p.Gln909=) c.2793G>A (p.Gln931=) c.2745G>A (p.Gln915=) c.2610G>A (p.Gln870=) | |
16 | g.28835662G>C | CA395408295 | ATXN2L | c.2799G>C (p.Gln933His) c.774G>C (p.Gln258His) n.3173G>C c.2817G>C (p.Gln939His) c.1863G>C (n.1863G>C) c.68G>C c.777G>C (p.Gln259His) c.319G>C c.2820G>C (p.Gln940His) c.2802G>C (p.Gln934His) c.2640G>C (p.Gln880His) c.2748G>C (p.Gln916His) c.2730G>C (p.Gln910His) c.2454G>C (p.Gln818His) n.3029G>C c.2622G>C (p.Gln874His) c.2436G>C (p.Gln812His) n.3032G>C c.2727G>C (p.Gln909His) c.2793G>C (p.Gln931His) c.2745G>C (p.Gln915His) c.2610G>C (p.Gln870His) | gnomAD v4 |
16 | g.28835662G>T | CA395408296 | ATXN2L | c.2799G>T (p.Gln933His) c.774G>T (p.Gln258His) n.3173G>T c.2817G>T (p.Gln939His) c.1863G>T (n.1863G>T) c.68G>T c.777G>T (p.Gln259His) c.319G>T c.2820G>T (p.Gln940His) c.2802G>T (p.Gln934His) c.2640G>T (p.Gln880His) c.2748G>T (p.Gln916His) c.2730G>T (p.Gln910His) c.2454G>T (p.Gln818His) n.3029G>T c.2622G>T (p.Gln874His) c.2436G>T (p.Gln812His) n.3032G>T c.2727G>T (p.Gln909His) c.2793G>T (p.Gln931His) c.2745G>T (p.Gln915His) c.2610G>T (p.Gln870His) | |
16 | g.28835663T>A | CA395408297 | ATXN2L | c.2800T>A (p.Ser934Thr) c.775T>A (p.Ser259Thr) n.3174T>A c.2818T>A (p.Ser940Thr) c.1864T>A (n.1864T>A) c.69T>A c.778T>A (p.Ser260Thr) c.320T>A c.2821T>A (p.Ser941Thr) c.2803T>A (p.Ser935Thr) c.2641T>A (p.Ser881Thr) c.2749T>A (p.Ser917Thr) c.2731T>A (p.Ser911Thr) c.2455T>A (p.Ser819Thr) n.3030T>A c.2623T>A (p.Ser875Thr) c.2437T>A (p.Ser813Thr) n.3033T>A c.2728T>A (p.Ser910Thr) c.2794T>A (p.Ser932Thr) c.2746T>A (p.Ser916Thr) c.2611T>A (p.Ser871Thr) | |
16 | g.28835663T>C | CA395408298 | ATXN2L | c.2800T>C (p.Ser934Pro) c.775T>C (p.Ser259Pro) n.3174T>C c.2818T>C (p.Ser940Pro) c.1864T>C (n.1864T>C) c.69T>C c.778T>C (p.Ser260Pro) c.320T>C c.2821T>C (p.Ser941Pro) c.2803T>C (p.Ser935Pro) c.2641T>C (p.Ser881Pro) c.2749T>C (p.Ser917Pro) c.2731T>C (p.Ser911Pro) c.2455T>C (p.Ser819Pro) n.3030T>C c.2623T>C (p.Ser875Pro) c.2437T>C (p.Ser813Pro) n.3033T>C c.2728T>C (p.Ser910Pro) c.2794T>C (p.Ser932Pro) c.2746T>C (p.Ser916Pro) c.2611T>C (p.Ser871Pro) | gnomAD v4 |
16 | g.28835663T>G | CA7985095 | ATXN2L | c.2800T>G (p.Ser934Ala) c.775T>G (p.Ser259Ala) n.3174T>G c.2818T>G (p.Ser940Ala) c.1864T>G (n.1864T>G) c.69T>G c.778T>G (p.Ser260Ala) c.320T>G c.2821T>G (p.Ser941Ala) c.2803T>G (p.Ser935Ala) c.2641T>G (p.Ser881Ala) c.2749T>G (p.Ser917Ala) c.2731T>G (p.Ser911Ala) c.2455T>G (p.Ser819Ala) n.3030T>G c.2623T>G (p.Ser875Ala) c.2437T>G (p.Ser813Ala) n.3033T>G c.2728T>G (p.Ser910Ala) c.2794T>G (p.Ser932Ala) c.2746T>G (p.Ser916Ala) c.2611T>G (p.Ser871Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835663T= | CA2215806409 | ATXN2L | c.2800T= (p.Ser934=) c.775T= (p.Ser259=) n.3174T= c.2818T= (p.Ser940=) c.1864T= (n.1864T=) c.69T= c.778T= (p.Ser260=) c.320T= c.2821T= (p.Ser941=) c.2803T= (p.Ser935=) c.2641T= (p.Ser881=) c.2749T= (p.Ser917=) c.2731T= (p.Ser911=) c.2455T= (p.Ser819=) n.3030T= c.2623T= (p.Ser875=) c.2437T= (p.Ser813=) n.3033T= c.2728T= (p.Ser910=) c.2794T= (p.Ser932=) c.2746T= (p.Ser916=) c.2611T= (p.Ser871=) | |
16 | g.28835664C>A | CA395408301 | ATXN2L | c.2801C>A (p.Ser934Tyr) c.776C>A (p.Ser259Tyr) n.3175C>A c.2819C>A (p.Ser940Tyr) c.1865C>A (n.1865C>A) c.70C>A c.779C>A (p.Ser260Tyr) c.321C>A c.2822C>A (p.Ser941Tyr) c.2804C>A (p.Ser935Tyr) c.2642C>A (p.Ser881Tyr) c.2750C>A (p.Ser917Tyr) c.2732C>A (p.Ser911Tyr) c.2456C>A (p.Ser819Tyr) n.3031C>A c.2624C>A (p.Ser875Tyr) c.2438C>A (p.Ser813Tyr) n.3034C>A c.2729C>A (p.Ser910Tyr) c.2795C>A (p.Ser932Tyr) c.2747C>A (p.Ser916Tyr) c.2612C>A (p.Ser871Tyr) | gnomAD v4 |
16 | g.28835664C>G | CA395408300 | ATXN2L | c.2801C>G (p.Ser934Cys) c.776C>G (p.Ser259Cys) n.3175C>G c.2819C>G (p.Ser940Cys) c.1865C>G (n.1865C>G) c.70C>G c.779C>G (p.Ser260Cys) c.321C>G c.2822C>G (p.Ser941Cys) c.2804C>G (p.Ser935Cys) c.2642C>G (p.Ser881Cys) c.2750C>G (p.Ser917Cys) c.2732C>G (p.Ser911Cys) c.2456C>G (p.Ser819Cys) n.3031C>G c.2624C>G (p.Ser875Cys) c.2438C>G (p.Ser813Cys) n.3034C>G c.2729C>G (p.Ser910Cys) c.2795C>G (p.Ser932Cys) c.2747C>G (p.Ser916Cys) c.2612C>G (p.Ser871Cys) | |
16 | g.28835664C>T | CA395408299 | ATXN2L | c.2801C>T (p.Ser934Phe) c.776C>T (p.Ser259Phe) n.3175C>T c.2819C>T (p.Ser940Phe) c.1865C>T (n.1865C>T) c.70C>T c.779C>T (p.Ser260Phe) c.321C>T c.2822C>T (p.Ser941Phe) c.2804C>T (p.Ser935Phe) c.2642C>T (p.Ser881Phe) c.2750C>T (p.Ser917Phe) c.2732C>T (p.Ser911Phe) c.2456C>T (p.Ser819Phe) n.3031C>T c.2624C>T (p.Ser875Phe) c.2438C>T (p.Ser813Phe) n.3034C>T c.2729C>T (p.Ser910Phe) c.2795C>T (p.Ser932Phe) c.2747C>T (p.Ser916Phe) c.2612C>T (p.Ser871Phe) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
16 | g.28835665C>A | CA494868967 | ATXN2L | c.2802C>A (p.Ser934=) c.777C>A (p.Ser259=) n.3176C>A c.2820C>A (p.Ser940=) c.1866C>A (n.1866C>A) c.71C>A c.780C>A (p.Ser260=) c.322C>A c.2823C>A (p.Ser941=) c.2805C>A (p.Ser935=) c.2643C>A (p.Ser881=) c.2751C>A (p.Ser917=) c.2733C>A (p.Ser911=) c.2457C>A (p.Ser819=) n.3032C>A c.2625C>A (p.Ser875=) c.2439C>A (p.Ser813=) n.3035C>A c.2730C>A (p.Ser910=) c.2796C>A (p.Ser932=) c.2748C>A (p.Ser916=) c.2613C>A (p.Ser871=) | |
16 | g.28835665C>G | CA494868970 | ATXN2L | c.2802C>G (p.Ser934=) c.777C>G (p.Ser259=) n.3176C>G c.2820C>G (p.Ser940=) c.1866C>G (n.1866C>G) c.71C>G c.780C>G (p.Ser260=) c.322C>G c.2823C>G (p.Ser941=) c.2805C>G (p.Ser935=) c.2643C>G (p.Ser881=) c.2751C>G (p.Ser917=) c.2733C>G (p.Ser911=) c.2457C>G (p.Ser819=) n.3032C>G c.2625C>G (p.Ser875=) c.2439C>G (p.Ser813=) n.3035C>G c.2730C>G (p.Ser910=) c.2796C>G (p.Ser932=) c.2748C>G (p.Ser916=) c.2613C>G (p.Ser871=) | gnomAD v4 |
16 | g.28835665C>T | CA494868982 | ATXN2L | c.2802C>T (p.Ser934=) c.777C>T (p.Ser259=) n.3176C>T c.2820C>T (p.Ser940=) c.1866C>T (n.1866C>T) c.71C>T c.780C>T (p.Ser260=) c.322C>T c.2823C>T (p.Ser941=) c.2805C>T (p.Ser935=) c.2643C>T (p.Ser881=) c.2751C>T (p.Ser917=) c.2733C>T (p.Ser911=) c.2457C>T (p.Ser819=) n.3032C>T c.2625C>T (p.Ser875=) c.2439C>T (p.Ser813=) n.3035C>T c.2730C>T (p.Ser910=) c.2796C>T (p.Ser932=) c.2748C>T (p.Ser916=) c.2613C>T (p.Ser871=) | gnomAD v4 |
16 | g.28835666C>A | CA395408302 | ATXN2L | c.2803C>A (p.Pro935Thr) c.778C>A (p.Pro260Thr) n.3177C>A c.2821C>A (p.Pro941Thr) c.1867C>A (n.1867C>A) c.72C>A c.781C>A (p.Pro261Thr) c.323C>A c.2824C>A (p.Pro942Thr) c.2806C>A (p.Pro936Thr) c.2644C>A (p.Pro882Thr) c.2752C>A (p.Pro918Thr) c.2734C>A (p.Pro912Thr) c.2458C>A (p.Pro820Thr) n.3033C>A c.2626C>A (p.Pro876Thr) c.2440C>A (p.Pro814Thr) n.3036C>A c.2731C>A (p.Pro911Thr) c.2797C>A (p.Pro933Thr) c.2749C>A (p.Pro917Thr) c.2614C>A (p.Pro872Thr) | |
16 | g.28835666C>G | CA395408303 | ATXN2L | c.2803C>G (p.Pro935Ala) c.778C>G (p.Pro260Ala) n.3177C>G c.2821C>G (p.Pro941Ala) c.1867C>G (n.1867C>G) c.72C>G c.781C>G (p.Pro261Ala) c.323C>G c.2824C>G (p.Pro942Ala) c.2806C>G (p.Pro936Ala) c.2644C>G (p.Pro882Ala) c.2752C>G (p.Pro918Ala) c.2734C>G (p.Pro912Ala) c.2458C>G (p.Pro820Ala) n.3033C>G c.2626C>G (p.Pro876Ala) c.2440C>G (p.Pro814Ala) n.3036C>G c.2731C>G (p.Pro911Ala) c.2797C>G (p.Pro933Ala) c.2749C>G (p.Pro917Ala) c.2614C>G (p.Pro872Ala) | gnomAD v4 |
16 | g.28835666C>T | CA395408304 | ATXN2L | c.2803C>T (p.Pro935Ser) c.778C>T (p.Pro260Ser) n.3177C>T c.2821C>T (p.Pro941Ser) c.1867C>T (n.1867C>T) c.72C>T c.781C>T (p.Pro261Ser) c.323C>T c.2824C>T (p.Pro942Ser) c.2806C>T (p.Pro936Ser) c.2644C>T (p.Pro882Ser) c.2752C>T (p.Pro918Ser) c.2734C>T (p.Pro912Ser) c.2458C>T (p.Pro820Ser) n.3033C>T c.2626C>T (p.Pro876Ser) c.2440C>T (p.Pro814Ser) n.3036C>T c.2731C>T (p.Pro911Ser) c.2797C>T (p.Pro933Ser) c.2749C>T (p.Pro917Ser) c.2614C>T (p.Pro872Ser) | COSMIC COSMIC COSMIC COSMIC |
16 | g.28835667C>A | CA395408305 | ATXN2L | c.2804C>A (p.Pro935His) c.779C>A (p.Pro260His) n.3178C>A c.2822C>A (p.Pro941His) c.1868C>A (n.1868C>A) c.73C>A c.782C>A (p.Pro261His) c.324C>A c.2825C>A (p.Pro942His) c.2807C>A (p.Pro936His) c.2645C>A (p.Pro882His) c.2753C>A (p.Pro918His) c.2735C>A (p.Pro912His) c.2459C>A (p.Pro820His) n.3034C>A c.2627C>A (p.Pro876His) c.2441C>A (p.Pro814His) n.3037C>A c.2732C>A (p.Pro911His) c.2798C>A (p.Pro933His) c.2750C>A (p.Pro917His) c.2615C>A (p.Pro872His) | COSMIC COSMIC |
16 | g.28835667C>G | CA395408306 | ATXN2L | c.2804C>G (p.Pro935Arg) c.779C>G (p.Pro260Arg) n.3178C>G c.2822C>G (p.Pro941Arg) c.1868C>G (n.1868C>G) c.73C>G c.782C>G (p.Pro261Arg) c.324C>G c.2825C>G (p.Pro942Arg) c.2807C>G (p.Pro936Arg) c.2645C>G (p.Pro882Arg) c.2753C>G (p.Pro918Arg) c.2735C>G (p.Pro912Arg) c.2459C>G (p.Pro820Arg) n.3034C>G c.2627C>G (p.Pro876Arg) c.2441C>G (p.Pro814Arg) n.3037C>G c.2732C>G (p.Pro911Arg) c.2798C>G (p.Pro933Arg) c.2750C>G (p.Pro917Arg) c.2615C>G (p.Pro872Arg) | |
16 | g.28835667C>T | CA395408307 | ATXN2L | c.2804C>T (p.Pro935Leu) c.779C>T (p.Pro260Leu) n.3178C>T c.2822C>T (p.Pro941Leu) c.1868C>T (n.1868C>T) c.73C>T c.782C>T (p.Pro261Leu) c.324C>T c.2825C>T (p.Pro942Leu) c.2807C>T (p.Pro936Leu) c.2645C>T (p.Pro882Leu) c.2753C>T (p.Pro918Leu) c.2735C>T (p.Pro912Leu) c.2459C>T (p.Pro820Leu) n.3034C>T c.2627C>T (p.Pro876Leu) c.2441C>T (p.Pro814Leu) n.3037C>T c.2732C>T (p.Pro911Leu) c.2798C>T (p.Pro933Leu) c.2750C>T (p.Pro917Leu) c.2615C>T (p.Pro872Leu) | |
16 | g.28835668T>A | CA494869002 | ATXN2L | c.2805T>A (p.Pro935=) c.780T>A (p.Pro260=) n.3179T>A c.2823T>A (p.Pro941=) c.1869T>A (n.1869T>A) c.74T>A c.783T>A (p.Pro261=) c.325T>A c.2826T>A (p.Pro942=) c.2808T>A (p.Pro936=) c.2646T>A (p.Pro882=) c.2754T>A (p.Pro918=) c.2736T>A (p.Pro912=) c.2460T>A (p.Pro820=) n.3035T>A c.2628T>A (p.Pro876=) c.2442T>A (p.Pro814=) n.3038T>A c.2733T>A (p.Pro911=) c.2799T>A (p.Pro933=) c.2751T>A (p.Pro917=) c.2616T>A (p.Pro872=) | |
16 | g.28835668T>C | CA494869006 | ATXN2L | c.2805T>C (p.Pro935=) c.780T>C (p.Pro260=) n.3179T>C c.2823T>C (p.Pro941=) c.1869T>C (n.1869T>C) c.74T>C c.783T>C (p.Pro261=) c.325T>C c.2826T>C (p.Pro942=) c.2808T>C (p.Pro936=) c.2646T>C (p.Pro882=) c.2754T>C (p.Pro918=) c.2736T>C (p.Pro912=) c.2460T>C (p.Pro820=) n.3035T>C c.2628T>C (p.Pro876=) c.2442T>C (p.Pro814=) n.3038T>C c.2733T>C (p.Pro911=) c.2799T>C (p.Pro933=) c.2751T>C (p.Pro917=) c.2616T>C (p.Pro872=) | |
16 | g.28835668T>G | CA494869011 | ATXN2L | c.2805T>G (p.Pro935=) c.780T>G (p.Pro260=) n.3179T>G c.2823T>G (p.Pro941=) c.1869T>G (n.1869T>G) c.74T>G c.783T>G (p.Pro261=) c.325T>G c.2826T>G (p.Pro942=) c.2808T>G (p.Pro936=) c.2646T>G (p.Pro882=) c.2754T>G (p.Pro918=) c.2736T>G (p.Pro912=) c.2460T>G (p.Pro820=) n.3035T>G c.2628T>G (p.Pro876=) c.2442T>G (p.Pro814=) n.3038T>G c.2733T>G (p.Pro911=) c.2799T>G (p.Pro933=) c.2751T>G (p.Pro917=) c.2616T>G (p.Pro872=) | |
16 | g.28835669C>A | CA395408310 | ATXN2L | c.2806C>A (p.Gln936Lys) c.781C>A (p.Gln261Lys) n.3180C>A c.1C>A (p.Gln1Lys) c.2824C>A (p.Gln942Lys) c.1870C>A (n.1870C>A) c.75C>A c.784C>A (p.Gln262Lys) c.326C>A c.2827C>A (p.Gln943Lys) c.2809C>A (p.Gln937Lys) c.2647C>A (p.Gln883Lys) c.2755C>A (p.Gln919Lys) c.2737C>A (p.Gln913Lys) c.2461C>A (p.Gln821Lys) n.3036C>A c.2629C>A (p.Gln877Lys) c.2443C>A (p.Gln815Lys) n.3039C>A c.2734C>A (p.Gln912Lys) c.2800C>A (p.Gln934Lys) c.2752C>A (p.Gln918Lys) c.2617C>A (p.Gln873Lys) | |
16 | g.28835669C>G | CA395408308 | ATXN2L | c.2806C>G (p.Gln936Glu) c.781C>G (p.Gln261Glu) n.3180C>G c.1C>G (p.Gln1Glu) c.2824C>G (p.Gln942Glu) c.1870C>G (n.1870C>G) c.75C>G c.784C>G (p.Gln262Glu) c.326C>G c.2827C>G (p.Gln943Glu) c.2809C>G (p.Gln937Glu) c.2647C>G (p.Gln883Glu) c.2755C>G (p.Gln919Glu) c.2737C>G (p.Gln913Glu) c.2461C>G (p.Gln821Glu) n.3036C>G c.2629C>G (p.Gln877Glu) c.2443C>G (p.Gln815Glu) n.3039C>G c.2734C>G (p.Gln912Glu) c.2800C>G (p.Gln934Glu) c.2752C>G (p.Gln918Glu) c.2617C>G (p.Gln873Glu) | |
16 | g.28835669C>T | CA395408309 | ATXN2L | c.2806C>T (p.Gln936Ter) c.781C>T (p.Gln261Ter) n.3180C>T c.1C>T (p.Gln1Ter) c.2824C>T (p.Gln942Ter) c.1870C>T (n.1870C>T) c.75C>T c.784C>T (p.Gln262Ter) c.326C>T c.2827C>T (p.Gln943Ter) c.2809C>T (p.Gln937Ter) c.2647C>T (p.Gln883Ter) c.2755C>T (p.Gln919Ter) c.2737C>T (p.Gln913Ter) c.2461C>T (p.Gln821Ter) n.3036C>T c.2629C>T (p.Gln877Ter) c.2443C>T (p.Gln815Ter) n.3039C>T c.2734C>T (p.Gln912Ter) c.2800C>T (p.Gln934Ter) c.2752C>T (p.Gln918Ter) c.2617C>T (p.Gln873Ter) | |
16 | g.28835670A>C | CA395408311 | ATXN2L | c.2807A>C (p.Gln936Pro) c.782A>C (p.Gln261Pro) n.3181A>C c.2A>C (p.Gln1Pro) c.2825A>C (p.Gln942Pro) c.1871A>C (n.1871A>C) c.76A>C c.785A>C (p.Gln262Pro) c.327A>C c.2828A>C (p.Gln943Pro) c.2810A>C (p.Gln937Pro) c.2648A>C (p.Gln883Pro) c.2756A>C (p.Gln919Pro) c.2738A>C (p.Gln913Pro) c.2462A>C (p.Gln821Pro) n.3037A>C c.2630A>C (p.Gln877Pro) c.2444A>C (p.Gln815Pro) n.3040A>C c.2735A>C (p.Gln912Pro) c.2801A>C (p.Gln934Pro) c.2753A>C (p.Gln918Pro) c.2618A>C (p.Gln873Pro) | |
16 | g.28835670A>G | CA395408312 | ATXN2L | c.2807A>G (p.Gln936Arg) c.782A>G (p.Gln261Arg) n.3181A>G c.2A>G (p.Gln1Arg) c.2825A>G (p.Gln942Arg) c.1871A>G (n.1871A>G) c.76A>G c.785A>G (p.Gln262Arg) c.327A>G c.2828A>G (p.Gln943Arg) c.2810A>G (p.Gln937Arg) c.2648A>G (p.Gln883Arg) c.2756A>G (p.Gln919Arg) c.2738A>G (p.Gln913Arg) c.2462A>G (p.Gln821Arg) n.3037A>G c.2630A>G (p.Gln877Arg) c.2444A>G (p.Gln815Arg) n.3040A>G c.2735A>G (p.Gln912Arg) c.2801A>G (p.Gln934Arg) c.2753A>G (p.Gln918Arg) c.2618A>G (p.Gln873Arg) | |
16 | g.28835670A>T | CA395408313 | ATXN2L | c.2807A>T (p.Gln936Leu) c.782A>T (p.Gln261Leu) n.3181A>T c.2A>T (p.Gln1Leu) c.2825A>T (p.Gln942Leu) c.1871A>T (n.1871A>T) c.76A>T c.785A>T (p.Gln262Leu) c.327A>T c.2828A>T (p.Gln943Leu) c.2810A>T (p.Gln937Leu) c.2648A>T (p.Gln883Leu) c.2756A>T (p.Gln919Leu) c.2738A>T (p.Gln913Leu) c.2462A>T (p.Gln821Leu) n.3037A>T c.2630A>T (p.Gln877Leu) c.2444A>T (p.Gln815Leu) n.3040A>T c.2735A>T (p.Gln912Leu) c.2801A>T (p.Gln934Leu) c.2753A>T (p.Gln918Leu) c.2618A>T (p.Gln873Leu) | |
16 | g.28835671G>A | CA494869038 | ATXN2L | c.2808G>A (p.Gln936=) c.783G>A (p.Gln261=) n.3182G>A c.3G>A (p.Gln1=) c.2826G>A (p.Gln942=) c.1872G>A (n.1872G>A) c.77G>A c.786G>A (p.Gln262=) c.328G>A c.2829G>A (p.Gln943=) c.2811G>A (p.Gln937=) c.2649G>A (p.Gln883=) c.2757G>A (p.Gln919=) c.2739G>A (p.Gln913=) c.2463G>A (p.Gln821=) n.3038G>A c.2631G>A (p.Gln877=) c.2445G>A (p.Gln815=) n.3041G>A c.2736G>A (p.Gln912=) c.2802G>A (p.Gln934=) c.2754G>A (p.Gln918=) c.2619G>A (p.Gln873=) | |
16 | g.28835671G>C | CA395408314 | ATXN2L | c.2808G>C (p.Gln936His) c.783G>C (p.Gln261His) n.3182G>C c.3G>C (p.Gln1His) c.2826G>C (p.Gln942His) c.1872G>C (n.1872G>C) c.77G>C c.786G>C (p.Gln262His) c.328G>C c.2829G>C (p.Gln943His) c.2811G>C (p.Gln937His) c.2649G>C (p.Gln883His) c.2757G>C (p.Gln919His) c.2739G>C (p.Gln913His) c.2463G>C (p.Gln821His) n.3038G>C c.2631G>C (p.Gln877His) c.2445G>C (p.Gln815His) n.3041G>C c.2736G>C (p.Gln912His) c.2802G>C (p.Gln934His) c.2754G>C (p.Gln918His) c.2619G>C (p.Gln873His) | |
16 | g.28835671G>T | CA395408315 | ATXN2L | c.2808G>T (p.Gln936His) c.783G>T (p.Gln261His) n.3182G>T c.3G>T (p.Gln1His) c.2826G>T (p.Gln942His) c.1872G>T (n.1872G>T) c.77G>T c.786G>T (p.Gln262His) c.328G>T c.2829G>T (p.Gln943His) c.2811G>T (p.Gln937His) c.2649G>T (p.Gln883His) c.2757G>T (p.Gln919His) c.2739G>T (p.Gln913His) c.2463G>T (p.Gln821His) n.3038G>T c.2631G>T (p.Gln877His) c.2445G>T (p.Gln815His) n.3041G>T c.2736G>T (p.Gln912His) c.2802G>T (p.Gln934His) c.2754G>T (p.Gln918His) c.2619G>T (p.Gln873His) | |
16 | g.28835672A>C | CA395408316 | ATXN2L | c.2809A>C (p.Ser937Arg) c.784A>C (p.Ser262Arg) n.3183A>C c.4A>C (p.Ser2Arg) c.2827A>C (p.Ser943Arg) c.1873A>C (n.1873A>C) c.78A>C c.787A>C (p.Ser263Arg) c.329A>C c.2830A>C (p.Ser944Arg) c.2812A>C (p.Ser938Arg) c.2650A>C (p.Ser884Arg) c.2758A>C (p.Ser920Arg) c.2740A>C (p.Ser914Arg) c.2464A>C (p.Ser822Arg) n.3039A>C c.2632A>C (p.Ser878Arg) c.2446A>C (p.Ser816Arg) n.3042A>C c.2737A>C (p.Ser913Arg) c.2803A>C (p.Ser935Arg) c.2755A>C (p.Ser919Arg) c.2620A>C (p.Ser874Arg) | |
16 | g.28835672A>G | CA395408318 | ATXN2L | c.2809A>G (p.Ser937Gly) c.784A>G (p.Ser262Gly) n.3183A>G c.4A>G (p.Ser2Gly) c.2827A>G (p.Ser943Gly) c.1873A>G (n.1873A>G) c.78A>G c.787A>G (p.Ser263Gly) c.329A>G c.2830A>G (p.Ser944Gly) c.2812A>G (p.Ser938Gly) c.2650A>G (p.Ser884Gly) c.2758A>G (p.Ser920Gly) c.2740A>G (p.Ser914Gly) c.2464A>G (p.Ser822Gly) n.3039A>G c.2632A>G (p.Ser878Gly) c.2446A>G (p.Ser816Gly) n.3042A>G c.2737A>G (p.Ser913Gly) c.2803A>G (p.Ser935Gly) c.2755A>G (p.Ser919Gly) c.2620A>G (p.Ser874Gly) | |
16 | g.28835672A>T | CA395408317 | ATXN2L | c.2809A>T (p.Ser937Cys) c.784A>T (p.Ser262Cys) n.3183A>T c.4A>T (p.Ser2Cys) c.2827A>T (p.Ser943Cys) c.1873A>T (n.1873A>T) c.78A>T c.787A>T (p.Ser263Cys) c.329A>T c.2830A>T (p.Ser944Cys) c.2812A>T (p.Ser938Cys) c.2650A>T (p.Ser884Cys) c.2758A>T (p.Ser920Cys) c.2740A>T (p.Ser914Cys) c.2464A>T (p.Ser822Cys) n.3039A>T c.2632A>T (p.Ser878Cys) c.2446A>T (p.Ser816Cys) n.3042A>T c.2737A>T (p.Ser913Cys) c.2803A>T (p.Ser935Cys) c.2755A>T (p.Ser919Cys) c.2620A>T (p.Ser874Cys) | |
16 | g.28835673G>A | CA7985096 | ATXN2L | c.2810G>A (p.Ser937Asn) c.785G>A (p.Ser262Asn) n.3184G>A c.5G>A (p.Ser2Asn) c.2828G>A (p.Ser943Asn) c.1874G>A (n.1874G>A) c.79G>A c.788G>A (p.Ser263Asn) c.330G>A c.2831G>A (p.Ser944Asn) c.2813G>A (p.Ser938Asn) c.2651G>A (p.Ser884Asn) c.2759G>A (p.Ser920Asn) c.2741G>A (p.Ser914Asn) c.2465G>A (p.Ser822Asn) n.3040G>A c.2633G>A (p.Ser878Asn) c.2447G>A (p.Ser816Asn) n.3043G>A c.2738G>A (p.Ser913Asn) c.2804G>A (p.Ser935Asn) c.2756G>A (p.Ser919Asn) c.2621G>A (p.Ser874Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835673G>C | CA395408319 | ATXN2L | c.2810G>C (p.Ser937Thr) c.785G>C (p.Ser262Thr) n.3184G>C c.5G>C (p.Ser2Thr) c.2828G>C (p.Ser943Thr) c.1874G>C (n.1874G>C) c.79G>C c.788G>C (p.Ser263Thr) c.330G>C c.2831G>C (p.Ser944Thr) c.2813G>C (p.Ser938Thr) c.2651G>C (p.Ser884Thr) c.2759G>C (p.Ser920Thr) c.2741G>C (p.Ser914Thr) c.2465G>C (p.Ser822Thr) n.3040G>C c.2633G>C (p.Ser878Thr) c.2447G>C (p.Ser816Thr) n.3043G>C c.2738G>C (p.Ser913Thr) c.2804G>C (p.Ser935Thr) c.2756G>C (p.Ser919Thr) c.2621G>C (p.Ser874Thr) | |
16 | g.28835673G= | CA2215806414 | ATXN2L | c.2810G= (p.Ser937=) c.785G= (p.Ser262=) n.3184G= c.5G= (p.Ser2=) c.2828G= (p.Ser943=) c.1874G= (n.1874G=) c.79G= c.788G= (p.Ser263=) c.330G= c.2831G= (p.Ser944=) c.2813G= (p.Ser938=) c.2651G= (p.Ser884=) c.2759G= (p.Ser920=) c.2741G= (p.Ser914=) c.2465G= (p.Ser822=) n.3040G= c.2633G= (p.Ser878=) c.2447G= (p.Ser816=) n.3043G= c.2738G= (p.Ser913=) c.2804G= (p.Ser935=) c.2756G= (p.Ser919=) c.2621G= (p.Ser874=) | |
16 | g.28835673G>T | CA395408320 | ATXN2L | c.2810G>T (p.Ser937Ile) c.785G>T (p.Ser262Ile) n.3184G>T c.5G>T (p.Ser2Ile) c.2828G>T (p.Ser943Ile) c.1874G>T (n.1874G>T) c.79G>T c.788G>T (p.Ser263Ile) c.330G>T c.2831G>T (p.Ser944Ile) c.2813G>T (p.Ser938Ile) c.2651G>T (p.Ser884Ile) c.2759G>T (p.Ser920Ile) c.2741G>T (p.Ser914Ile) c.2465G>T (p.Ser822Ile) n.3040G>T c.2633G>T (p.Ser878Ile) c.2447G>T (p.Ser816Ile) n.3043G>T c.2738G>T (p.Ser913Ile) c.2804G>T (p.Ser935Ile) c.2756G>T (p.Ser919Ile) c.2621G>T (p.Ser874Ile) | |
16 | g.28835674C>A | CA395408321 | ATXN2L | c.2811C>A (p.Ser937Arg) c.786C>A (p.Ser262Arg) n.3185C>A c.6C>A (p.Ser2Arg) c.2829C>A (p.Ser943Arg) c.1875C>A (n.1875C>A) c.80C>A c.789C>A (p.Ser263Arg) c.331C>A c.2832C>A (p.Ser944Arg) c.2814C>A (p.Ser938Arg) c.2652C>A (p.Ser884Arg) c.2760C>A (p.Ser920Arg) c.2742C>A (p.Ser914Arg) c.2466C>A (p.Ser822Arg) n.3041C>A c.2634C>A (p.Ser878Arg) c.2448C>A (p.Ser816Arg) n.3044C>A c.2739C>A (p.Ser913Arg) c.2805C>A (p.Ser935Arg) c.2757C>A (p.Ser919Arg) c.2622C>A (p.Ser874Arg) | |
16 | g.28835674C>G | CA395408322 | ATXN2L | c.2811C>G (p.Ser937Arg) c.786C>G (p.Ser262Arg) n.3185C>G c.6C>G (p.Ser2Arg) c.2829C>G (p.Ser943Arg) c.1875C>G (n.1875C>G) c.80C>G c.789C>G (p.Ser263Arg) c.331C>G c.2832C>G (p.Ser944Arg) c.2814C>G (p.Ser938Arg) c.2652C>G (p.Ser884Arg) c.2760C>G (p.Ser920Arg) c.2742C>G (p.Ser914Arg) c.2466C>G (p.Ser822Arg) n.3041C>G c.2634C>G (p.Ser878Arg) c.2448C>G (p.Ser816Arg) n.3044C>G c.2739C>G (p.Ser913Arg) c.2805C>G (p.Ser935Arg) c.2757C>G (p.Ser919Arg) c.2622C>G (p.Ser874Arg) | |
16 | g.28835674C>T | CA494869064 | ATXN2L | c.2811C>T (p.Ser937=) c.786C>T (p.Ser262=) n.3185C>T c.6C>T (p.Ser2=) c.2829C>T (p.Ser943=) c.1875C>T (n.1875C>T) c.80C>T c.789C>T (p.Ser263=) c.331C>T c.2832C>T (p.Ser944=) c.2814C>T (p.Ser938=) c.2652C>T (p.Ser884=) c.2760C>T (p.Ser920=) c.2742C>T (p.Ser914=) c.2466C>T (p.Ser822=) n.3041C>T c.2634C>T (p.Ser878=) c.2448C>T (p.Ser816=) n.3044C>T c.2739C>T (p.Ser913=) c.2805C>T (p.Ser935=) c.2757C>T (p.Ser919=) c.2622C>T (p.Ser874=) | gnomAD v4 |
16 | g.28835675A>C | CA395408323 | ATXN2L | c.2812A>C (p.Ser938Arg) c.787A>C (p.Ser263Arg) n.3186A>C c.7A>C (p.Ser3Arg) c.2830A>C (p.Ser944Arg) c.1876A>C (n.1876A>C) c.81A>C c.790A>C (p.Ser264Arg) c.332A>C c.2833A>C (p.Ser945Arg) c.2815A>C (p.Ser939Arg) c.2653A>C (p.Ser885Arg) c.2761A>C (p.Ser921Arg) c.2743A>C (p.Ser915Arg) c.2467A>C (p.Ser823Arg) n.3042A>C c.2635A>C (p.Ser879Arg) c.2449A>C (p.Ser817Arg) n.3045A>C c.2740A>C (p.Ser914Arg) c.2806A>C (p.Ser936Arg) c.2758A>C (p.Ser920Arg) c.2623A>C (p.Ser875Arg) | |
16 | g.28835675A>G | CA395408324 | ATXN2L | c.2812A>G (p.Ser938Gly) c.787A>G (p.Ser263Gly) n.3186A>G c.7A>G (p.Ser3Gly) c.2830A>G (p.Ser944Gly) c.1876A>G (n.1876A>G) c.81A>G c.790A>G (p.Ser264Gly) c.332A>G c.2833A>G (p.Ser945Gly) c.2815A>G (p.Ser939Gly) c.2653A>G (p.Ser885Gly) c.2761A>G (p.Ser921Gly) c.2743A>G (p.Ser915Gly) c.2467A>G (p.Ser823Gly) n.3042A>G c.2635A>G (p.Ser879Gly) c.2449A>G (p.Ser817Gly) n.3045A>G c.2740A>G (p.Ser914Gly) c.2806A>G (p.Ser936Gly) c.2758A>G (p.Ser920Gly) c.2623A>G (p.Ser875Gly) | |
16 | g.28835675A>T | CA395408325 | ATXN2L | c.2812A>T (p.Ser938Cys) c.787A>T (p.Ser263Cys) n.3186A>T c.7A>T (p.Ser3Cys) c.2830A>T (p.Ser944Cys) c.1876A>T (n.1876A>T) c.81A>T c.790A>T (p.Ser264Cys) c.332A>T c.2833A>T (p.Ser945Cys) c.2815A>T (p.Ser939Cys) c.2653A>T (p.Ser885Cys) c.2761A>T (p.Ser921Cys) c.2743A>T (p.Ser915Cys) c.2467A>T (p.Ser823Cys) n.3042A>T c.2635A>T (p.Ser879Cys) c.2449A>T (p.Ser817Cys) n.3045A>T c.2740A>T (p.Ser914Cys) c.2806A>T (p.Ser936Cys) c.2758A>T (p.Ser920Cys) c.2623A>T (p.Ser875Cys) | |
16 | g.28835676G>A | CA395408326 | ATXN2L | c.2813G>A (p.Ser938Asn) c.788G>A (p.Ser263Asn) n.3187G>A c.8G>A (p.Ser3Asn) c.2831G>A (p.Ser944Asn) c.1877G>A (n.1877G>A) c.82G>A c.791G>A (p.Ser264Asn) c.333G>A c.2834G>A (p.Ser945Asn) c.2816G>A (p.Ser939Asn) c.2654G>A (p.Ser885Asn) c.2762G>A (p.Ser921Asn) c.2744G>A (p.Ser915Asn) c.2468G>A (p.Ser823Asn) n.3043G>A c.2636G>A (p.Ser879Asn) c.2450G>A (p.Ser817Asn) n.3046G>A c.2741G>A (p.Ser914Asn) c.2807G>A (p.Ser936Asn) c.2759G>A (p.Ser920Asn) c.2624G>A (p.Ser875Asn) | gnomAD v4 |
16 | g.28835676G>C | CA395408327 | ATXN2L | c.2813G>C (p.Ser938Thr) c.788G>C (p.Ser263Thr) n.3187G>C c.8G>C (p.Ser3Thr) c.2831G>C (p.Ser944Thr) c.1877G>C (n.1877G>C) c.82G>C c.791G>C (p.Ser264Thr) c.333G>C c.2834G>C (p.Ser945Thr) c.2816G>C (p.Ser939Thr) c.2654G>C (p.Ser885Thr) c.2762G>C (p.Ser921Thr) c.2744G>C (p.Ser915Thr) c.2468G>C (p.Ser823Thr) n.3043G>C c.2636G>C (p.Ser879Thr) c.2450G>C (p.Ser817Thr) n.3046G>C c.2741G>C (p.Ser914Thr) c.2807G>C (p.Ser936Thr) c.2759G>C (p.Ser920Thr) c.2624G>C (p.Ser875Thr) | dbSNP gnomAD v4 |
16 | g.28835676G= | CA2215806417 | ATXN2L | c.2813G= (p.Ser938=) c.788G= (p.Ser263=) n.3187G= c.8G= (p.Ser3=) c.2831G= (p.Ser944=) c.1877G= (n.1877G=) c.82G= c.791G= (p.Ser264=) c.333G= c.2834G= (p.Ser945=) c.2816G= (p.Ser939=) c.2654G= (p.Ser885=) c.2762G= (p.Ser921=) c.2744G= (p.Ser915=) c.2468G= (p.Ser823=) n.3043G= c.2636G= (p.Ser879=) c.2450G= (p.Ser817=) n.3046G= c.2741G= (p.Ser914=) c.2807G= (p.Ser936=) c.2759G= (p.Ser920=) c.2624G= (p.Ser875=) | |
16 | g.28835676G>T | CA395408328 | ATXN2L | c.2813G>T (p.Ser938Ile) c.788G>T (p.Ser263Ile) n.3187G>T c.8G>T (p.Ser3Ile) c.2831G>T (p.Ser944Ile) c.1877G>T (n.1877G>T) c.82G>T c.791G>T (p.Ser264Ile) c.333G>T c.2834G>T (p.Ser945Ile) c.2816G>T (p.Ser939Ile) c.2654G>T (p.Ser885Ile) c.2762G>T (p.Ser921Ile) c.2744G>T (p.Ser915Ile) c.2468G>T (p.Ser823Ile) n.3043G>T c.2636G>T (p.Ser879Ile) c.2450G>T (p.Ser817Ile) n.3046G>T c.2741G>T (p.Ser914Ile) c.2807G>T (p.Ser936Ile) c.2759G>T (p.Ser920Ile) c.2624G>T (p.Ser875Ile) | |
16 | g.28835677C>A | CA395408329 | ATXN2L | c.2814C>A (p.Ser938Arg) c.789C>A (p.Ser263Arg) n.3188C>A c.9C>A (p.Ser3Arg) c.2832C>A (p.Ser944Arg) c.1878C>A (n.1878C>A) c.83C>A c.792C>A (p.Ser264Arg) c.334C>A c.2835C>A (p.Ser945Arg) c.2817C>A (p.Ser939Arg) c.2655C>A (p.Ser885Arg) c.2763C>A (p.Ser921Arg) c.2745C>A (p.Ser915Arg) c.2469C>A (p.Ser823Arg) n.3044C>A c.2637C>A (p.Ser879Arg) c.2451C>A (p.Ser817Arg) n.3047C>A c.2742C>A (p.Ser914Arg) c.2808C>A (p.Ser936Arg) c.2760C>A (p.Ser920Arg) c.2625C>A (p.Ser875Arg) | |
16 | g.28835677C>G | CA395408330 | ATXN2L | c.2814C>G (p.Ser938Arg) c.789C>G (p.Ser263Arg) n.3188C>G c.9C>G (p.Ser3Arg) c.2832C>G (p.Ser944Arg) c.1878C>G (n.1878C>G) c.83C>G c.792C>G (p.Ser264Arg) c.334C>G c.2835C>G (p.Ser945Arg) c.2817C>G (p.Ser939Arg) c.2655C>G (p.Ser885Arg) c.2763C>G (p.Ser921Arg) c.2745C>G (p.Ser915Arg) c.2469C>G (p.Ser823Arg) n.3044C>G c.2637C>G (p.Ser879Arg) c.2451C>G (p.Ser817Arg) n.3047C>G c.2742C>G (p.Ser914Arg) c.2808C>G (p.Ser936Arg) c.2760C>G (p.Ser920Arg) c.2625C>G (p.Ser875Arg) | |
16 | g.28835677C>T | CA494869085 | ATXN2L | c.2814C>T (p.Ser938=) c.789C>T (p.Ser263=) n.3188C>T c.9C>T (p.Ser3=) c.2832C>T (p.Ser944=) c.1878C>T (n.1878C>T) c.83C>T c.792C>T (p.Ser264=) c.334C>T c.2835C>T (p.Ser945=) c.2817C>T (p.Ser939=) c.2655C>T (p.Ser885=) c.2763C>T (p.Ser921=) c.2745C>T (p.Ser915=) c.2469C>T (p.Ser823=) n.3044C>T c.2637C>T (p.Ser879=) c.2451C>T (p.Ser817=) n.3047C>T c.2742C>T (p.Ser914=) c.2808C>T (p.Ser936=) c.2760C>T (p.Ser920=) c.2625C>T (p.Ser875=) | |
16 | g.28835678T>A | CA395408331 | ATXN2L | c.2815T>A (p.Phe939Ile) c.790T>A (p.Phe264Ile) n.3189T>A c.10T>A (p.Phe4Ile) c.2833T>A (p.Phe945Ile) c.1879T>A (n.1879T>A) c.84T>A c.793T>A (p.Phe265Ile) c.335T>A c.2836T>A (p.Phe946Ile) c.2818T>A (p.Phe940Ile) c.2656T>A (p.Phe886Ile) c.2764T>A (p.Phe922Ile) c.2746T>A (p.Phe916Ile) c.2470T>A (p.Phe824Ile) n.3045T>A c.2638T>A (p.Phe880Ile) c.2452T>A (p.Phe818Ile) n.3048T>A c.2743T>A (p.Phe915Ile) c.2809T>A (p.Phe937Ile) c.2761T>A (p.Phe921Ile) c.2626T>A (p.Phe876Ile) | |
16 | g.28835678T>C | CA395408333 | ATXN2L | c.2815T>C (p.Phe939Leu) c.790T>C (p.Phe264Leu) n.3189T>C c.10T>C (p.Phe4Leu) c.2833T>C (p.Phe945Leu) c.1879T>C (n.1879T>C) c.84T>C c.793T>C (p.Phe265Leu) c.335T>C c.2836T>C (p.Phe946Leu) c.2818T>C (p.Phe940Leu) c.2656T>C (p.Phe886Leu) c.2764T>C (p.Phe922Leu) c.2746T>C (p.Phe916Leu) c.2470T>C (p.Phe824Leu) n.3045T>C c.2638T>C (p.Phe880Leu) c.2452T>C (p.Phe818Leu) n.3048T>C c.2743T>C (p.Phe915Leu) c.2809T>C (p.Phe937Leu) c.2761T>C (p.Phe921Leu) c.2626T>C (p.Phe876Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835678T>G | CA395408335 | ATXN2L | c.2815T>G (p.Phe939Val) c.790T>G (p.Phe264Val) n.3189T>G c.10T>G (p.Phe4Val) c.2833T>G (p.Phe945Val) c.1879T>G (n.1879T>G) c.84T>G c.793T>G (p.Phe265Val) c.335T>G c.2836T>G (p.Phe946Val) c.2818T>G (p.Phe940Val) c.2656T>G (p.Phe886Val) c.2764T>G (p.Phe922Val) c.2746T>G (p.Phe916Val) c.2470T>G (p.Phe824Val) n.3045T>G c.2638T>G (p.Phe880Val) c.2452T>G (p.Phe818Val) n.3048T>G c.2743T>G (p.Phe915Val) c.2809T>G (p.Phe937Val) c.2761T>G (p.Phe921Val) c.2626T>G (p.Phe876Val) | |
16 | g.28835678T= | CA2215806422 | ATXN2L | c.2815T= (p.Phe939=) c.790T= (p.Phe264=) n.3189T= c.10T= (p.Phe4=) c.2833T= (p.Phe945=) c.1879T= (n.1879T=) c.84T= c.793T= (p.Phe265=) c.335T= c.2836T= (p.Phe946=) c.2818T= (p.Phe940=) c.2656T= (p.Phe886=) c.2764T= (p.Phe922=) c.2746T= (p.Phe916=) c.2470T= (p.Phe824=) n.3045T= c.2638T= (p.Phe880=) c.2452T= (p.Phe818=) n.3048T= c.2743T= (p.Phe915=) c.2809T= (p.Phe937=) c.2761T= (p.Phe921=) c.2626T= (p.Phe876=) | |
16 | g.28835679T>A | CA395408337 | ATXN2L | c.2816T>A (p.Phe939Tyr) c.791T>A (p.Phe264Tyr) n.3190T>A c.11T>A (p.Phe4Tyr) c.2834T>A (p.Phe945Tyr) c.1880T>A (n.1880T>A) c.85T>A c.794T>A (p.Phe265Tyr) c.336T>A c.2837T>A (p.Phe946Tyr) c.2819T>A (p.Phe940Tyr) c.2657T>A (p.Phe886Tyr) c.2765T>A (p.Phe922Tyr) c.2747T>A (p.Phe916Tyr) c.2471T>A (p.Phe824Tyr) n.3046T>A c.2639T>A (p.Phe880Tyr) c.2453T>A (p.Phe818Tyr) n.3049T>A c.2744T>A (p.Phe915Tyr) c.2810T>A (p.Phe937Tyr) c.2762T>A (p.Phe921Tyr) c.2627T>A (p.Phe876Tyr) | |
16 | g.28835679T>C | CA395408339 | ATXN2L | c.2816T>C (p.Phe939Ser) c.791T>C (p.Phe264Ser) n.3190T>C c.11T>C (p.Phe4Ser) c.2834T>C (p.Phe945Ser) c.1880T>C (n.1880T>C) c.85T>C c.794T>C (p.Phe265Ser) c.336T>C c.2837T>C (p.Phe946Ser) c.2819T>C (p.Phe940Ser) c.2657T>C (p.Phe886Ser) c.2765T>C (p.Phe922Ser) c.2747T>C (p.Phe916Ser) c.2471T>C (p.Phe824Ser) n.3046T>C c.2639T>C (p.Phe880Ser) c.2453T>C (p.Phe818Ser) n.3049T>C c.2744T>C (p.Phe915Ser) c.2810T>C (p.Phe937Ser) c.2762T>C (p.Phe921Ser) c.2627T>C (p.Phe876Ser) | |
16 | g.28835679T>G | CA395408341 | ATXN2L | c.2816T>G (p.Phe939Cys) c.791T>G (p.Phe264Cys) n.3190T>G c.11T>G (p.Phe4Cys) c.2834T>G (p.Phe945Cys) c.1880T>G (n.1880T>G) c.85T>G c.794T>G (p.Phe265Cys) c.336T>G c.2837T>G (p.Phe946Cys) c.2819T>G (p.Phe940Cys) c.2657T>G (p.Phe886Cys) c.2765T>G (p.Phe922Cys) c.2747T>G (p.Phe916Cys) c.2471T>G (p.Phe824Cys) n.3046T>G c.2639T>G (p.Phe880Cys) c.2453T>G (p.Phe818Cys) n.3049T>G c.2744T>G (p.Phe915Cys) c.2810T>G (p.Phe937Cys) c.2762T>G (p.Phe921Cys) c.2627T>G (p.Phe876Cys) | |
16 | g.28835680C>A | CA395408344 | ATXN2L | c.2817C>A (p.Phe939Leu) c.792C>A (p.Phe264Leu) n.3191C>A c.12C>A (p.Phe4Leu) c.2835C>A (p.Phe945Leu) c.1881C>A (n.1881C>A) c.86C>A c.795C>A (p.Phe265Leu) c.337C>A c.2838C>A (p.Phe946Leu) c.2820C>A (p.Phe940Leu) c.2658C>A (p.Phe886Leu) c.2766C>A (p.Phe922Leu) c.2748C>A (p.Phe916Leu) c.2472C>A (p.Phe824Leu) n.3047C>A c.2640C>A (p.Phe880Leu) c.2454C>A (p.Phe818Leu) n.3050C>A c.2745C>A (p.Phe915Leu) c.2811C>A (p.Phe937Leu) c.2763C>A (p.Phe921Leu) c.2628C>A (p.Phe876Leu) | |
16 | g.28835680C>G | CA395408346 | ATXN2L | c.2817C>G (p.Phe939Leu) c.792C>G (p.Phe264Leu) n.3191C>G c.12C>G (p.Phe4Leu) c.2835C>G (p.Phe945Leu) c.1881C>G (n.1881C>G) c.86C>G c.795C>G (p.Phe265Leu) c.337C>G c.2838C>G (p.Phe946Leu) c.2820C>G (p.Phe940Leu) c.2658C>G (p.Phe886Leu) c.2766C>G (p.Phe922Leu) c.2748C>G (p.Phe916Leu) c.2472C>G (p.Phe824Leu) n.3047C>G c.2640C>G (p.Phe880Leu) c.2454C>G (p.Phe818Leu) n.3050C>G c.2745C>G (p.Phe915Leu) c.2811C>G (p.Phe937Leu) c.2763C>G (p.Phe921Leu) c.2628C>G (p.Phe876Leu) | |
16 | g.28835680C>T | CA494869108 | ATXN2L | c.2817C>T (p.Phe939=) c.792C>T (p.Phe264=) n.3191C>T c.12C>T (p.Phe4=) c.2835C>T (p.Phe945=) c.1881C>T (n.1881C>T) c.86C>T c.795C>T (p.Phe265=) c.337C>T c.2838C>T (p.Phe946=) c.2820C>T (p.Phe940=) c.2658C>T (p.Phe886=) c.2766C>T (p.Phe922=) c.2748C>T (p.Phe916=) c.2472C>T (p.Phe824=) n.3047C>T c.2640C>T (p.Phe880=) c.2454C>T (p.Phe818=) n.3050C>T c.2745C>T (p.Phe915=) c.2811C>T (p.Phe937=) c.2763C>T (p.Phe921=) c.2628C>T (p.Phe876=) | |
16 | g.28835681C>A | CA395408349 | ATXN2L | c.2818C>A (p.Pro940Thr) c.793C>A (p.Pro265Thr) n.3192C>A c.13C>A (p.Pro5Thr) c.2836C>A (p.Pro946Thr) c.1882C>A (n.1882C>A) c.87C>A c.796C>A (p.Pro266Thr) c.338C>A c.2839C>A (p.Pro947Thr) c.2821C>A (p.Pro941Thr) c.2659C>A (p.Pro887Thr) c.2767C>A (p.Pro923Thr) c.2749C>A (p.Pro917Thr) c.2473C>A (p.Pro825Thr) n.3048C>A c.2641C>A (p.Pro881Thr) c.2455C>A (p.Pro819Thr) n.3051C>A c.2746C>A (p.Pro916Thr) c.2812C>A (p.Pro938Thr) c.2764C>A (p.Pro922Thr) c.2629C>A (p.Pro877Thr) | |
16 | g.28835681C>G | CA395408352 | ATXN2L | c.2818C>G (p.Pro940Ala) c.793C>G (p.Pro265Ala) n.3192C>G c.13C>G (p.Pro5Ala) c.2836C>G (p.Pro946Ala) c.1882C>G (n.1882C>G) c.87C>G c.796C>G (p.Pro266Ala) c.338C>G c.2839C>G (p.Pro947Ala) c.2821C>G (p.Pro941Ala) c.2659C>G (p.Pro887Ala) c.2767C>G (p.Pro923Ala) c.2749C>G (p.Pro917Ala) c.2473C>G (p.Pro825Ala) n.3048C>G c.2641C>G (p.Pro881Ala) c.2455C>G (p.Pro819Ala) n.3051C>G c.2746C>G (p.Pro916Ala) c.2812C>G (p.Pro938Ala) c.2764C>G (p.Pro922Ala) c.2629C>G (p.Pro877Ala) | |
16 | g.28835681C>T | CA395408354 | ATXN2L | c.2818C>T (p.Pro940Ser) c.793C>T (p.Pro265Ser) n.3192C>T c.13C>T (p.Pro5Ser) c.2836C>T (p.Pro946Ser) c.1882C>T (n.1882C>T) c.87C>T c.796C>T (p.Pro266Ser) c.338C>T c.2839C>T (p.Pro947Ser) c.2821C>T (p.Pro941Ser) c.2659C>T (p.Pro887Ser) c.2767C>T (p.Pro923Ser) c.2749C>T (p.Pro917Ser) c.2473C>T (p.Pro825Ser) n.3048C>T c.2641C>T (p.Pro881Ser) c.2455C>T (p.Pro819Ser) n.3051C>T c.2746C>T (p.Pro916Ser) c.2812C>T (p.Pro938Ser) c.2764C>T (p.Pro922Ser) c.2629C>T (p.Pro877Ser) | |
16 | g.28835682C>A | CA395408357 | ATXN2L | c.2819C>A (p.Pro940His) c.794C>A (p.Pro265His) n.3193C>A c.14C>A (p.Pro5His) c.2837C>A (p.Pro946His) c.1883C>A (n.1883C>A) c.88C>A c.797C>A (p.Pro266His) c.339C>A c.2840C>A (p.Pro947His) c.2822C>A (p.Pro941His) c.2660C>A (p.Pro887His) c.2768C>A (p.Pro923His) c.2750C>A (p.Pro917His) c.2474C>A (p.Pro825His) n.3049C>A c.2642C>A (p.Pro881His) c.2456C>A (p.Pro819His) n.3052C>A c.2747C>A (p.Pro916His) c.2813C>A (p.Pro938His) c.2765C>A (p.Pro922His) c.2630C>A (p.Pro877His) | |
16 | g.28835682C>G | CA395408359 | ATXN2L | c.2819C>G (p.Pro940Arg) c.794C>G (p.Pro265Arg) n.3193C>G c.14C>G (p.Pro5Arg) c.2837C>G (p.Pro946Arg) c.1883C>G (n.1883C>G) c.88C>G c.797C>G (p.Pro266Arg) c.339C>G c.2840C>G (p.Pro947Arg) c.2822C>G (p.Pro941Arg) c.2660C>G (p.Pro887Arg) c.2768C>G (p.Pro923Arg) c.2750C>G (p.Pro917Arg) c.2474C>G (p.Pro825Arg) n.3049C>G c.2642C>G (p.Pro881Arg) c.2456C>G (p.Pro819Arg) n.3052C>G c.2747C>G (p.Pro916Arg) c.2813C>G (p.Pro938Arg) c.2765C>G (p.Pro922Arg) c.2630C>G (p.Pro877Arg) | |
16 | g.28835682C>T | CA395408361 | ATXN2L | c.2819C>T (p.Pro940Leu) c.794C>T (p.Pro265Leu) n.3193C>T c.14C>T (p.Pro5Leu) c.2837C>T (p.Pro946Leu) c.1883C>T (n.1883C>T) c.88C>T c.797C>T (p.Pro266Leu) c.339C>T c.2840C>T (p.Pro947Leu) c.2822C>T (p.Pro941Leu) c.2660C>T (p.Pro887Leu) c.2768C>T (p.Pro923Leu) c.2750C>T (p.Pro917Leu) c.2474C>T (p.Pro825Leu) n.3049C>T c.2642C>T (p.Pro881Leu) c.2456C>T (p.Pro819Leu) n.3052C>T c.2747C>T (p.Pro916Leu) c.2813C>T (p.Pro938Leu) c.2765C>T (p.Pro922Leu) c.2630C>T (p.Pro877Leu) | |
16 | g.28835683C>A | CA494869129 | ATXN2L | c.2820C>A (p.Pro940=) c.795C>A (p.Pro265=) n.3194C>A c.15C>A (p.Pro5=) c.2838C>A (p.Pro946=) c.1884C>A (n.1884C>A) c.89C>A c.798C>A (p.Pro266=) c.340C>A c.2841C>A (p.Pro947=) c.2823C>A (p.Pro941=) c.2661C>A (p.Pro887=) c.2769C>A (p.Pro923=) c.2751C>A (p.Pro917=) c.2475C>A (p.Pro825=) n.3050C>A c.2643C>A (p.Pro881=) c.2457C>A (p.Pro819=) n.3053C>A c.2748C>A (p.Pro916=) c.2814C>A (p.Pro938=) c.2766C>A (p.Pro922=) c.2631C>A (p.Pro877=) | gnomAD v4 |
16 | g.28835683C= | CA2215806424 | ATXN2L | c.2820C= (p.Pro940=) c.795C= (p.Pro265=) n.3194C= c.15C= (p.Pro5=) c.2838C= (p.Pro946=) c.1884C= (n.1884C=) c.89C= c.798C= (p.Pro266=) c.340C= c.2841C= (p.Pro947=) c.2823C= (p.Pro941=) c.2661C= (p.Pro887=) c.2769C= (p.Pro923=) c.2751C= (p.Pro917=) c.2475C= (p.Pro825=) n.3050C= c.2643C= (p.Pro881=) c.2457C= (p.Pro819=) n.3053C= c.2748C= (p.Pro916=) c.2814C= (p.Pro938=) c.2766C= (p.Pro922=) c.2631C= (p.Pro877=) | |
16 | g.28835683C>G | CA7985097 | ATXN2L | c.2820C>G (p.Pro940=) c.795C>G (p.Pro265=) n.3194C>G c.15C>G (p.Pro5=) c.2838C>G (p.Pro946=) c.1884C>G (n.1884C>G) c.89C>G c.798C>G (p.Pro266=) c.340C>G c.2841C>G (p.Pro947=) c.2823C>G (p.Pro941=) c.2661C>G (p.Pro887=) c.2769C>G (p.Pro923=) c.2751C>G (p.Pro917=) c.2475C>G (p.Pro825=) n.3050C>G c.2643C>G (p.Pro881=) c.2457C>G (p.Pro819=) n.3053C>G c.2748C>G (p.Pro916=) c.2814C>G (p.Pro938=) c.2766C>G (p.Pro922=) c.2631C>G (p.Pro877=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28835683C>T | CA7985098 | ATXN2L | c.2820C>T (p.Pro940=) c.795C>T (p.Pro265=) n.3194C>T c.15C>T (p.Pro5=) c.2838C>T (p.Pro946=) c.1884C>T (n.1884C>T) c.89C>T c.798C>T (p.Pro266=) c.340C>T c.2841C>T (p.Pro947=) c.2823C>T (p.Pro941=) c.2661C>T (p.Pro887=) c.2769C>T (p.Pro923=) c.2751C>T (p.Pro917=) c.2475C>T (p.Pro825=) n.3050C>T c.2643C>T (p.Pro881=) c.2457C>T (p.Pro819=) n.3053C>T c.2748C>T (p.Pro916=) c.2814C>T (p.Pro938=) c.2766C>T (p.Pro922=) c.2631C>T (p.Pro877=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28835684C>A | CA395408363 | ATXN2L | c.2821C>A (p.Gln941Lys) c.796C>A (p.Gln266Lys) n.3195C>A c.16C>A (p.Gln6Lys) c.2839C>A (p.Gln947Lys) c.1885C>A (n.1885C>A) c.90C>A c.799C>A (p.Gln267Lys) c.341C>A c.2842C>A (p.Gln948Lys) c.2824C>A (p.Gln942Lys) c.2662C>A (p.Gln888Lys) c.2770C>A (p.Gln924Lys) c.2752C>A (p.Gln918Lys) c.2476C>A (p.Gln826Lys) n.3051C>A c.2644C>A (p.Gln882Lys) c.2458C>A (p.Gln820Lys) n.3054C>A c.2749C>A (p.Gln917Lys) c.2815C>A (p.Gln939Lys) c.2767C>A (p.Gln923Lys) c.2632C>A (p.Gln878Lys) | |
16 | g.28835684C>G | CA395408365 | ATXN2L | c.2821C>G (p.Gln941Glu) c.796C>G (p.Gln266Glu) n.3195C>G c.16C>G (p.Gln6Glu) c.2839C>G (p.Gln947Glu) c.1885C>G (n.1885C>G) c.90C>G c.799C>G (p.Gln267Glu) c.341C>G c.2842C>G (p.Gln948Glu) c.2824C>G (p.Gln942Glu) c.2662C>G (p.Gln888Glu) c.2770C>G (p.Gln924Glu) c.2752C>G (p.Gln918Glu) c.2476C>G (p.Gln826Glu) n.3051C>G c.2644C>G (p.Gln882Glu) c.2458C>G (p.Gln820Glu) n.3054C>G c.2749C>G (p.Gln917Glu) c.2815C>G (p.Gln939Glu) c.2767C>G (p.Gln923Glu) c.2632C>G (p.Gln878Glu) | |
16 | g.28835684C>T | CA395408367 | ATXN2L | c.2821C>T (p.Gln941Ter) c.796C>T (p.Gln266Ter) n.3195C>T c.16C>T (p.Gln6Ter) c.2839C>T (p.Gln947Ter) c.1885C>T (n.1885C>T) c.90C>T c.799C>T (p.Gln267Ter) c.341C>T c.2842C>T (p.Gln948Ter) c.2824C>T (p.Gln942Ter) c.2662C>T (p.Gln888Ter) c.2770C>T (p.Gln924Ter) c.2752C>T (p.Gln918Ter) c.2476C>T (p.Gln826Ter) n.3051C>T c.2644C>T (p.Gln882Ter) c.2458C>T (p.Gln820Ter) n.3054C>T c.2749C>T (p.Gln917Ter) c.2815C>T (p.Gln939Ter) c.2767C>T (p.Gln923Ter) c.2632C>T (p.Gln878Ter) | |
16 | g.28835685A>C | CA395408369 | ATXN2L | c.2822A>C (p.Gln941Pro) c.797A>C (p.Gln266Pro) n.3196A>C c.17A>C (p.Gln6Pro) c.2840A>C (p.Gln947Pro) c.1886A>C (n.1886A>C) c.91A>C c.800A>C (p.Gln267Pro) c.342A>C c.2843A>C (p.Gln948Pro) c.2825A>C (p.Gln942Pro) c.2663A>C (p.Gln888Pro) c.2771A>C (p.Gln924Pro) c.2753A>C (p.Gln918Pro) c.2477A>C (p.Gln826Pro) n.3052A>C c.2645A>C (p.Gln882Pro) c.2459A>C (p.Gln820Pro) n.3055A>C c.2750A>C (p.Gln917Pro) c.2816A>C (p.Gln939Pro) c.2768A>C (p.Gln923Pro) c.2633A>C (p.Gln878Pro) | |
16 | g.28835685A>G | CA395408371 | ATXN2L | c.2822A>G (p.Gln941Arg) c.797A>G (p.Gln266Arg) n.3196A>G c.17A>G (p.Gln6Arg) c.2840A>G (p.Gln947Arg) c.1886A>G (n.1886A>G) c.91A>G c.800A>G (p.Gln267Arg) c.342A>G c.2843A>G (p.Gln948Arg) c.2825A>G (p.Gln942Arg) c.2663A>G (p.Gln888Arg) c.2771A>G (p.Gln924Arg) c.2753A>G (p.Gln918Arg) c.2477A>G (p.Gln826Arg) n.3052A>G c.2645A>G (p.Gln882Arg) c.2459A>G (p.Gln820Arg) n.3055A>G c.2750A>G (p.Gln917Arg) c.2816A>G (p.Gln939Arg) c.2768A>G (p.Gln923Arg) c.2633A>G (p.Gln878Arg) | |
16 | g.28835685A>T | CA395408373 | ATXN2L | c.2822A>T (p.Gln941Leu) c.797A>T (p.Gln266Leu) n.3196A>T c.17A>T (p.Gln6Leu) c.2840A>T (p.Gln947Leu) c.1886A>T (n.1886A>T) c.91A>T c.800A>T (p.Gln267Leu) c.342A>T c.2843A>T (p.Gln948Leu) c.2825A>T (p.Gln942Leu) c.2663A>T (p.Gln888Leu) c.2771A>T (p.Gln924Leu) c.2753A>T (p.Gln918Leu) c.2477A>T (p.Gln826Leu) n.3052A>T c.2645A>T (p.Gln882Leu) c.2459A>T (p.Gln820Leu) n.3055A>T c.2750A>T (p.Gln917Leu) c.2816A>T (p.Gln939Leu) c.2768A>T (p.Gln923Leu) c.2633A>T (p.Gln878Leu) | |
16 | g.28835686G>A | CA494869141 | ATXN2L | c.2823G>A (p.Gln941=) c.798G>A (p.Gln266=) n.3197G>A c.18G>A (p.Gln6=) c.2841G>A (p.Gln947=) c.1887G>A (n.1887G>A) c.92G>A c.801G>A (p.Gln267=) c.343G>A c.2844G>A (p.Gln948=) c.2826G>A (p.Gln942=) c.2664G>A (p.Gln888=) c.2772G>A (p.Gln924=) c.2754G>A (p.Gln918=) c.2478G>A (p.Gln826=) n.3053G>A c.2646G>A (p.Gln882=) c.2460G>A (p.Gln820=) n.3056G>A c.2751G>A (p.Gln917=) c.2817G>A (p.Gln939=) c.2769G>A (p.Gln923=) c.2634G>A (p.Gln878=) | gnomAD v4 |
16 | g.28835686G>C | CA395408377 | ATXN2L | c.2823G>C (p.Gln941His) c.798G>C (p.Gln266His) n.3197G>C c.18G>C (p.Gln6His) c.2841G>C (p.Gln947His) c.1887G>C (n.1887G>C) c.92G>C c.801G>C (p.Gln267His) c.343G>C c.2844G>C (p.Gln948His) c.2826G>C (p.Gln942His) c.2664G>C (p.Gln888His) c.2772G>C (p.Gln924His) c.2754G>C (p.Gln918His) c.2478G>C (p.Gln826His) n.3053G>C c.2646G>C (p.Gln882His) c.2460G>C (p.Gln820His) n.3056G>C c.2751G>C (p.Gln917His) c.2817G>C (p.Gln939His) c.2769G>C (p.Gln923His) c.2634G>C (p.Gln878His) | |
16 | g.28835686G>T | CA395408375 | ATXN2L | c.2823G>T (p.Gln941His) c.798G>T (p.Gln266His) n.3197G>T c.18G>T (p.Gln6His) c.2841G>T (p.Gln947His) c.1887G>T (n.1887G>T) c.92G>T c.801G>T (p.Gln267His) c.343G>T c.2844G>T (p.Gln948His) c.2826G>T (p.Gln942His) c.2664G>T (p.Gln888His) c.2772G>T (p.Gln924His) c.2754G>T (p.Gln918His) c.2478G>T (p.Gln826His) n.3053G>T c.2646G>T (p.Gln882His) c.2460G>T (p.Gln820His) n.3056G>T c.2751G>T (p.Gln917His) c.2817G>T (p.Gln939His) c.2769G>T (p.Gln923His) c.2634G>T (p.Gln878His) | |
16 | g.28835687C>A | CA395408379 | ATXN2L | c.2824C>A (p.Pro942Thr) c.799C>A (p.Pro267Thr) n.3198C>A c.19C>A (p.Pro7Thr) c.2842C>A (p.Pro948Thr) c.1888C>A (n.1888C>A) c.93C>A c.802C>A (p.Pro268Thr) c.344C>A c.2845C>A (p.Pro949Thr) c.2827C>A (p.Pro943Thr) c.2665C>A (p.Pro889Thr) c.2773C>A (p.Pro925Thr) c.2755C>A (p.Pro919Thr) c.2479C>A (p.Pro827Thr) n.3054C>A c.2647C>A (p.Pro883Thr) c.2461C>A (p.Pro821Thr) n.3057C>A c.2752C>A (p.Pro918Thr) c.2818C>A (p.Pro940Thr) c.2770C>A (p.Pro924Thr) c.2635C>A (p.Pro879Thr) | |
16 | g.28835687C>G | CA395408381 | ATXN2L | c.2824C>G (p.Pro942Ala) c.799C>G (p.Pro267Ala) n.3198C>G c.19C>G (p.Pro7Ala) c.2842C>G (p.Pro948Ala) c.1888C>G (n.1888C>G) c.93C>G c.802C>G (p.Pro268Ala) c.344C>G c.2845C>G (p.Pro949Ala) c.2827C>G (p.Pro943Ala) c.2665C>G (p.Pro889Ala) c.2773C>G (p.Pro925Ala) c.2755C>G (p.Pro919Ala) c.2479C>G (p.Pro827Ala) n.3054C>G c.2647C>G (p.Pro883Ala) c.2461C>G (p.Pro821Ala) n.3057C>G c.2752C>G (p.Pro918Ala) c.2818C>G (p.Pro940Ala) c.2770C>G (p.Pro924Ala) c.2635C>G (p.Pro879Ala) | |
16 | g.28835687C>T | CA395408382 | ATXN2L | c.2824C>T (p.Pro942Ser) c.799C>T (p.Pro267Ser) n.3198C>T c.19C>T (p.Pro7Ser) c.2842C>T (p.Pro948Ser) c.1888C>T (n.1888C>T) c.93C>T c.802C>T (p.Pro268Ser) c.344C>T c.2845C>T (p.Pro949Ser) c.2827C>T (p.Pro943Ser) c.2665C>T (p.Pro889Ser) c.2773C>T (p.Pro925Ser) c.2755C>T (p.Pro919Ser) c.2479C>T (p.Pro827Ser) n.3054C>T c.2647C>T (p.Pro883Ser) c.2461C>T (p.Pro821Ser) n.3057C>T c.2752C>T (p.Pro918Ser) c.2818C>T (p.Pro940Ser) c.2770C>T (p.Pro924Ser) c.2635C>T (p.Pro879Ser) | |
16 | g.28835688C>A | CA395408386 | ATXN2L | c.2825C>A (p.Pro942Gln) c.800C>A (p.Pro267Gln) n.3199C>A c.20C>A (p.Pro7Gln) c.2843C>A (p.Pro948Gln) c.1889C>A (n.1889C>A) c.94C>A c.803C>A (p.Pro268Gln) c.345C>A c.2846C>A (p.Pro949Gln) c.2828C>A (p.Pro943Gln) c.2666C>A (p.Pro889Gln) c.2774C>A (p.Pro925Gln) c.2756C>A (p.Pro919Gln) c.2480C>A (p.Pro827Gln) n.3055C>A c.2648C>A (p.Pro883Gln) c.2462C>A (p.Pro821Gln) n.3058C>A c.2753C>A (p.Pro918Gln) c.2819C>A (p.Pro940Gln) c.2771C>A (p.Pro924Gln) c.2636C>A (p.Pro879Gln) | |
16 | g.28835688C>G | CA395408387 | ATXN2L | c.2825C>G (p.Pro942Arg) c.800C>G (p.Pro267Arg) n.3199C>G c.20C>G (p.Pro7Arg) c.2843C>G (p.Pro948Arg) c.1889C>G (n.1889C>G) c.94C>G c.803C>G (p.Pro268Arg) c.345C>G c.2846C>G (p.Pro949Arg) c.2828C>G (p.Pro943Arg) c.2666C>G (p.Pro889Arg) c.2774C>G (p.Pro925Arg) c.2756C>G (p.Pro919Arg) c.2480C>G (p.Pro827Arg) n.3055C>G c.2648C>G (p.Pro883Arg) c.2462C>G (p.Pro821Arg) n.3058C>G c.2753C>G (p.Pro918Arg) c.2819C>G (p.Pro940Arg) c.2771C>G (p.Pro924Arg) c.2636C>G (p.Pro879Arg) | |
16 | g.28835688C>T | CA395408388 | ATXN2L | c.2825C>T (p.Pro942Leu) c.800C>T (p.Pro267Leu) n.3199C>T c.20C>T (p.Pro7Leu) c.2843C>T (p.Pro948Leu) c.1889C>T (n.1889C>T) c.94C>T c.803C>T (p.Pro268Leu) c.345C>T c.2846C>T (p.Pro949Leu) c.2828C>T (p.Pro943Leu) c.2666C>T (p.Pro889Leu) c.2774C>T (p.Pro925Leu) c.2756C>T (p.Pro919Leu) c.2480C>T (p.Pro827Leu) n.3055C>T c.2648C>T (p.Pro883Leu) c.2462C>T (p.Pro821Leu) n.3058C>T c.2753C>T (p.Pro918Leu) c.2819C>T (p.Pro940Leu) c.2771C>T (p.Pro924Leu) c.2636C>T (p.Pro879Leu) | |
16 | g.28835689A>C | CA494869166 | ATXN2L | c.2826A>C (p.Pro942=) c.801A>C (p.Pro267=) n.3200A>C c.21A>C (p.Pro7=) c.2844A>C (p.Pro948=) c.1890A>C (n.1890A>C) c.95A>C c.804A>C (p.Pro268=) c.346A>C c.2847A>C (p.Pro949=) c.2829A>C (p.Pro943=) c.2667A>C (p.Pro889=) c.2775A>C (p.Pro925=) c.2757A>C (p.Pro919=) c.2481A>C (p.Pro827=) n.3056A>C c.2649A>C (p.Pro883=) c.2463A>C (p.Pro821=) n.3059A>C c.2754A>C (p.Pro918=) c.2820A>C (p.Pro940=) c.2772A>C (p.Pro924=) c.2637A>C (p.Pro879=) | |
16 | g.28835689A>G | CA494869170 | ATXN2L | c.2826A>G (p.Pro942=) c.801A>G (p.Pro267=) n.3200A>G c.21A>G (p.Pro7=) c.2844A>G (p.Pro948=) c.1890A>G (n.1890A>G) c.95A>G c.804A>G (p.Pro268=) c.346A>G c.2847A>G (p.Pro949=) c.2829A>G (p.Pro943=) c.2667A>G (p.Pro889=) c.2775A>G (p.Pro925=) c.2757A>G (p.Pro919=) c.2481A>G (p.Pro827=) n.3056A>G c.2649A>G (p.Pro883=) c.2463A>G (p.Pro821=) n.3059A>G c.2754A>G (p.Pro918=) c.2820A>G (p.Pro940=) c.2772A>G (p.Pro924=) c.2637A>G (p.Pro879=) | |
16 | g.28835689A>T | CA494869171 | ATXN2L | c.2826A>T (p.Pro942=) c.801A>T (p.Pro267=) n.3200A>T c.21A>T (p.Pro7=) c.2844A>T (p.Pro948=) c.1890A>T (n.1890A>T) c.95A>T c.804A>T (p.Pro268=) c.346A>T c.2847A>T (p.Pro949=) c.2829A>T (p.Pro943=) c.2667A>T (p.Pro889=) c.2775A>T (p.Pro925=) c.2757A>T (p.Pro919=) c.2481A>T (p.Pro827=) n.3056A>T c.2649A>T (p.Pro883=) c.2463A>T (p.Pro821=) n.3059A>T c.2754A>T (p.Pro918=) c.2820A>T (p.Pro940=) c.2772A>T (p.Pro924=) c.2637A>T (p.Pro879=) | |
16 | g.28835690G>A | CA395408391 | ATXN2L | c.2827G>A (p.Ala943Thr) c.802G>A (p.Ala268Thr) n.3201G>A c.22G>A (p.Ala8Thr) c.2845G>A (p.Ala949Thr) c.1891G>A (n.1891G>A) c.96G>A c.805G>A (p.Ala269Thr) c.347G>A c.2848G>A (p.Ala950Thr) c.2830G>A (p.Ala944Thr) c.2668G>A (p.Ala890Thr) c.2776G>A (p.Ala926Thr) c.2758G>A (p.Ala920Thr) c.2482G>A (p.Ala828Thr) n.3057G>A c.2650G>A (p.Ala884Thr) c.2464G>A (p.Ala822Thr) n.3060G>A c.2755G>A (p.Ala919Thr) c.2821G>A (p.Ala941Thr) c.2773G>A (p.Ala925Thr) c.2638G>A (p.Ala880Thr) | |
16 | g.28835690G>C | CA395408395 | ATXN2L | c.2827G>C (p.Ala943Pro) c.802G>C (p.Ala268Pro) n.3201G>C c.22G>C (p.Ala8Pro) c.2845G>C (p.Ala949Pro) c.1891G>C (n.1891G>C) c.96G>C c.805G>C (p.Ala269Pro) c.347G>C c.2848G>C (p.Ala950Pro) c.2830G>C (p.Ala944Pro) c.2668G>C (p.Ala890Pro) c.2776G>C (p.Ala926Pro) c.2758G>C (p.Ala920Pro) c.2482G>C (p.Ala828Pro) n.3057G>C c.2650G>C (p.Ala884Pro) c.2464G>C (p.Ala822Pro) n.3060G>C c.2755G>C (p.Ala919Pro) c.2821G>C (p.Ala941Pro) c.2773G>C (p.Ala925Pro) c.2638G>C (p.Ala880Pro) | |
16 | g.28835690G>T | CA395408393 | ATXN2L | c.2827G>T (p.Ala943Ser) c.802G>T (p.Ala268Ser) n.3201G>T c.22G>T (p.Ala8Ser) c.2845G>T (p.Ala949Ser) c.1891G>T (n.1891G>T) c.96G>T c.805G>T (p.Ala269Ser) c.347G>T c.2848G>T (p.Ala950Ser) c.2830G>T (p.Ala944Ser) c.2668G>T (p.Ala890Ser) c.2776G>T (p.Ala926Ser) c.2758G>T (p.Ala920Ser) c.2482G>T (p.Ala828Ser) n.3057G>T c.2650G>T (p.Ala884Ser) c.2464G>T (p.Ala822Ser) n.3060G>T c.2755G>T (p.Ala919Ser) c.2821G>T (p.Ala941Ser) c.2773G>T (p.Ala925Ser) c.2638G>T (p.Ala880Ser) | |
16 | g.28835691C>A | CA395408397 | ATXN2L | c.2828C>A (p.Ala943Asp) c.803C>A (p.Ala268Asp) n.3202C>A c.23C>A (p.Ala8Asp) c.2846C>A (p.Ala949Asp) c.1892C>A (n.1892C>A) c.97C>A c.806C>A (p.Ala269Asp) c.348C>A c.2849C>A (p.Ala950Asp) c.2831C>A (p.Ala944Asp) c.2669C>A (p.Ala890Asp) c.2777C>A (p.Ala926Asp) c.2759C>A (p.Ala920Asp) c.2483C>A (p.Ala828Asp) n.3058C>A c.2651C>A (p.Ala884Asp) c.2465C>A (p.Ala822Asp) n.3061C>A c.2756C>A (p.Ala919Asp) c.2822C>A (p.Ala941Asp) c.2774C>A (p.Ala925Asp) c.2639C>A (p.Ala880Asp) | |
16 | g.28835691C>G | CA395408399 | ATXN2L | c.2828C>G (p.Ala943Gly) c.803C>G (p.Ala268Gly) n.3202C>G c.23C>G (p.Ala8Gly) c.2846C>G (p.Ala949Gly) c.1892C>G (n.1892C>G) c.97C>G c.806C>G (p.Ala269Gly) c.348C>G c.2849C>G (p.Ala950Gly) c.2831C>G (p.Ala944Gly) c.2669C>G (p.Ala890Gly) c.2777C>G (p.Ala926Gly) c.2759C>G (p.Ala920Gly) c.2483C>G (p.Ala828Gly) n.3058C>G c.2651C>G (p.Ala884Gly) c.2465C>G (p.Ala822Gly) n.3061C>G c.2756C>G (p.Ala919Gly) c.2822C>G (p.Ala941Gly) c.2774C>G (p.Ala925Gly) c.2639C>G (p.Ala880Gly) | |
16 | g.28835691C>T | CA395408401 | ATXN2L | c.2828C>T (p.Ala943Val) c.803C>T (p.Ala268Val) n.3202C>T c.23C>T (p.Ala8Val) c.2846C>T (p.Ala949Val) c.1892C>T (n.1892C>T) c.97C>T c.806C>T (p.Ala269Val) c.348C>T c.2849C>T (p.Ala950Val) c.2831C>T (p.Ala944Val) c.2669C>T (p.Ala890Val) c.2777C>T (p.Ala926Val) c.2759C>T (p.Ala920Val) c.2483C>T (p.Ala828Val) n.3058C>T c.2651C>T (p.Ala884Val) c.2465C>T (p.Ala822Val) n.3061C>T c.2756C>T (p.Ala919Val) c.2822C>T (p.Ala941Val) c.2774C>T (p.Ala925Val) c.2639C>T (p.Ala880Val) | |
16 | g.28835692C>A | CA494869183 | ATXN2L | c.2829C>A (p.Ala943=) c.804C>A (p.Ala268=) n.3203C>A c.24C>A (p.Ala8=) c.2847C>A (p.Ala949=) c.1893C>A (n.1893C>A) c.98C>A c.807C>A (p.Ala269=) c.349C>A c.2850C>A (p.Ala950=) c.2832C>A (p.Ala944=) c.2670C>A (p.Ala890=) c.2778C>A (p.Ala926=) c.2760C>A (p.Ala920=) c.2484C>A (p.Ala828=) n.3059C>A c.2652C>A (p.Ala884=) c.2466C>A (p.Ala822=) n.3062C>A c.2757C>A (p.Ala919=) c.2823C>A (p.Ala941=) c.2775C>A (p.Ala925=) c.2640C>A (p.Ala880=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28835692C= | CA2215806428 | ATXN2L | c.2829C= (p.Ala943=) c.804C= (p.Ala268=) n.3203C= c.24C= (p.Ala8=) c.2847C= (p.Ala949=) c.1893C= (n.1893C=) c.98C= c.807C= (p.Ala269=) c.349C= c.2850C= (p.Ala950=) c.2832C= (p.Ala944=) c.2670C= (p.Ala890=) c.2778C= (p.Ala926=) c.2760C= (p.Ala920=) c.2484C= (p.Ala828=) n.3059C= c.2652C= (p.Ala884=) c.2466C= (p.Ala822=) n.3062C= c.2757C= (p.Ala919=) c.2823C= (p.Ala941=) c.2775C= (p.Ala925=) c.2640C= (p.Ala880=) | |
16 | g.28835692C>G | CA494869188 | ATXN2L | c.2829C>G (p.Ala943=) c.804C>G (p.Ala268=) n.3203C>G c.24C>G (p.Ala8=) c.2847C>G (p.Ala949=) c.1893C>G (n.1893C>G) c.98C>G c.807C>G (p.Ala269=) c.349C>G c.2850C>G (p.Ala950=) c.2832C>G (p.Ala944=) c.2670C>G (p.Ala890=) c.2778C>G (p.Ala926=) c.2760C>G (p.Ala920=) c.2484C>G (p.Ala828=) n.3059C>G c.2652C>G (p.Ala884=) c.2466C>G (p.Ala822=) n.3062C>G c.2757C>G (p.Ala919=) c.2823C>G (p.Ala941=) c.2775C>G (p.Ala925=) c.2640C>G (p.Ala880=) | |
16 | g.28835692C>T | CA7985099 | ATXN2L | c.2829C>T (p.Ala943=) c.804C>T (p.Ala268=) n.3203C>T c.24C>T (p.Ala8=) c.2847C>T (p.Ala949=) c.1893C>T (n.1893C>T) c.98C>T c.807C>T (p.Ala269=) c.349C>T c.2850C>T (p.Ala950=) c.2832C>T (p.Ala944=) c.2670C>T (p.Ala890=) c.2778C>T (p.Ala926=) c.2760C>T (p.Ala920=) c.2484C>T (p.Ala828=) n.3059C>T c.2652C>T (p.Ala884=) c.2466C>T (p.Ala822=) n.3062C>T c.2757C>T (p.Ala919=) c.2823C>T (p.Ala941=) c.2775C>T (p.Ala925=) c.2640C>T (p.Ala880=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |